Síndrome de Adams-Oliver y complicaciones asociadas: reporte de una familia en Colombia y revisión de la literatura / Adams-Oliver syndrome and associated complications: Report of a family in Colombia and review of the literature

El síndrome de Adams-Oliver es un trastorno congénito raro, caracterizado por aplasia cutis congénita en el cuero cabelludo, defectos terminales transversales de las extremidades y piel marmorata telangiectásica congénita. Este puede presentarse debido a diferentes patrones de herencia de tipo autosómico dominante o autosómico recesivo, o por mutaciones dominantes de novo. Aunque el síndrome de Adams-Oliver es una enfermedad poco frecuente, es importante conocer sus características clínicas y patrones de herencia, para así establecer un correcto diagnóstico y sus posibles complicaciones durante el seguimiento. En el presente estudio, se describe el caso de una adolescente con síndrome de Adams-Oliver con patrón de herencia autosómica dominante, hipertensión pulmonar y bronquitis plástica. Había varios miembros de su familia con el mismo compromiso

The Adams-Oliver syndrome is a rare congenital disorder characterized by aplasia cutis congenita of the scalp, terminal transverse limb defects, and congenital telangiectatic cutis marmorata. It can occur through different inheritance patterns: autosomal dominant, autosomal recessive, or de novo dominant mutations. Although the Adams-Oliver syndrome is a rare disease, it is essential to know its clinical characteristics and inheritance patterns, to establish a correct diagnosis and its possible complications during follow-up. In the present study, we describe the case of an adolescent with Adams-Oliver syndrome with an autosomal dominant inheritance pattern, pulmonary hypertension and plastic bronchitis, and several compromised family members.

Inheritance Pattern and Association of Qualitative and Quantitative Traits in Cotton (Gossypium hirsutum L.) for Sustainable Breeding Goal

Background: Cotton (Gossypium hirsutum L.) is the most important fiber crop of the world and commonly known as white gold. It plays an important role in the economy of Pakistan. It provides raw material to the local textile industry and generates considerable amount of foreign exchange. The yield of cotton is lower in Pakistan. Knowledge of association among different traits is important for the development of cultivars with better yield and quality characters. Materials and Methods: In this research, two parents (PB-38 and Jambo Okra) and their crosses sown in randomized complete block design with three replications to sort out best performing genotypes for these profitable traits (plant height, number of sympodial branches, number of monopodial branches, leaf type, boll size, boll shape, number of bolls per plant, boll weight, ginning out turn, 100 seed weight and seed cotton yield). Results: Analysis of variance (ANOVA) revealed that parental and their F2 population showed significant differences for all the observed traits. Correlation and inheritance pattern of all characters provides information of association among all traits and percentage of inheritable attributes. Conclusions: The association and inheritance pattern study provide us useful information for effective selection and sustainable breeding programs. Heritability estimations revealed that heritability of traits fluctuate as following order; monopodial branches> ginning outturn>boll weight>sympodial branches>plant height>yield>number of bolls plant-1 with heritable percentages 99%, 90%, 89%, 64%, 60%, 60% and 55% respectively.

Resultados del programa de detección precoz de la anemia por hematíes falciformes en Mayarí durante 2002-2012 / Results of the Program of Early Detection of the Anemia for Sickle Cell in Mayarí during 2002 - 2012

Introducción: la anemia por hematíes falciformes y la enfermedad de hemoglobina SC son enfermedades genéticas con herencia autosómica recesiva, que no tienen tratamiento específico. Objetivo: caracterizar las gestantes con diferentes tipos de electroforesis de hemoglobina durante el periodo 2002-2012 en municipio Mayarí, provincia Holguín. Método: se realizó estudio retrospectivo, se determinó el porcentaje de electroforesis de hemoglobina según tipos y captaciones de embarazos según años, frecuencia de parejas estudiadas, porcentaje de parejas de alto riesgo diagnosticadas y estudiadas, resultado de estudios moleculares en fetos y desenlace de embarazos con fetos enfermos. Se calculó tasa de incidencia de hemoglobinopatías SS y SC. Resultados: el 5% de las gestantes presentaron hemoglobinas alteradas. Se estudiaron el 94,7% de las parejas sexuales de estas gestantes. Al 85,7% de las parejas de alto riesgo se le realizó estudio molecular y el 88,9% de las embarazadas con fetos enfermos con hemoglobina SS o SC optaron por la interrupción del embarazo. La tasa de incidencia de hemoglobinopatía SS o SC fue de 8,3 por 10 000 nacidos vivos en el municipio de Mayarí. Conclusiones: la elevada tasa de incidencia de Hb SS o Hb SC en gestantes del municipio de Mayarí durante 2002-2012 avala la importancia de mantener el programa de diagnóstico precoz de la anemia por células falciformes.

Introduction: sickle cell anemia and hemoglobin SC disease are genetic diseases with autosomal recessive inheritance, they have no specific treatment. Objective: to characterize pregnant women with different types of hemoglobin electrophoresis during the period 2002 - 2012 in Mayarí Municipality, Holguin province. Method: a retrospective study was conducted, the percentage of hemoglobin electrophoresis (EF Hb) was determined according to types of pregnancies according to age, frequency of couples studied, percentage of couples diagnosed as high risk resulting from molecular studies and outcome of pregnancies with sick fetuses. Incidence of hemoglobinopathies SS and SC was calculated Results: five per cent of pregnant women had altered hemoglobins. 94.7% of the sexual partners of these pregnant women were studied. Molecular study to 85.7% of high-risk partners was performed and 88.9% of pregnant women with sick fetuses (Hb SS o Hb SC) decided to interrupt the pregnancy. The incidence rate of Hb SS or SC was 8.3 per 10 000 live births in Mayari municipality. Conclusions: the high incidence of Hb SS and Hb SC in the municipality of Mayarí pregnant during 2002-2012 supports the importance of the program for early diagnosis of sickle cell anemia.

Copy Number Variation Burden on Asthma Subgenome in Normal Cohorts Identifies Susceptibility Markers

PURPOSE: Asthma is a complex disease caused by interplay of genes and environment on the genome of an individual. Copy number variations (CNVs) are more common compared to the other variations that disrupt genome organization. The effect of CNVs on asthma subgenome has been less studied compared to studies on the other variations. We report the assessments of CNV burden in asthma genes of normal cohorts carried out in different geographical areas of the world and discuss the relevance of the observation with respect to asthma pathogenesis. METHODS: CNV analysis was performed using Affymerix high-resolution arrays, and various bioinformatics tools were used to understand the influence of genes on asthma pathogenesis. RESULTS: This study identified 61 genes associated with asthma and provided various mechanisms and pathways underlying asthma pathogenesis. CCL3L1, ADAM8, and MUC5B were the most prevalent asthma genes. Among them, CCL3L1 was found across all 12 populations in varying copy number states. This study also identified the inheritance of asthma-CNVs from parents to offspring creating the latent period for manifestation of asthma. CONCLUSIONS: This study revealed CNV burden with varying copy number states and identified susceptibility towards the disease manifestation. It can be hypothesized that primary CNVs may not be the initiating event in the pathogenesis of asthma and additional preceding mutations or CNVs may be required. The initiator or primary CNVs sensitize normal cohorts leading to an increased probability of accumulating mutations or exposure to allergic stimulating agents that can augment the development of asthma.

Population based family history analysis of Brahmins in a small town in India for the prevalence of type-2 diabetes mellitus.

OBJECTIVES: The objective of this study is to determine the inheritance pattern of type‑2 diabetes and make stratification for the general population risk. MATERIALS AND METHODS: A questionnaire was developed for o btaining the family history. Analysis of the data was carried out by using student and Chi‑square tests and for stratification; the guidelines of Scheuner et al. were followed. RESULTS: The pattern of inheritance is the male sex specific (χ² =13.44). The mean age of onset of diabetes in parents was 58.61 ± 2.94 and in offspring 46.75 ± 2.54. In all 47.22 ± 11.53% families were found in high risk and 31.94 ± 10.77% in the moderate risk category. In female diabetics, the onset was in the age range of 41‑60 years. CONCLUSION: We found a high‑risk of diabetes and familial clustering in successive generations of Brahmins with prominent male sex specificity. In females onset of diabetes was coinciding with the period around menopause.

Clinical characteristics of congenital nystagmus / 中华实验眼科杂志

Background Congenital nystagmus is a common disease threatening visual function.The clinical description of congenital nystagmus is still not enough now. Objective The aim of this study was to report the motor and sensory characteristics of congenital nystagmus. Methods A retrospective clinical case analysis was designed.The clinical data of 376 patients with congenital nystagmus were collected.These patients were diagnosed in Henan Eye Institute from January,2005 to August,2011.The clinical characteristics of patients,including age,pedigree analysis,nystagmus classification,ocular alignment,visual acuity,refractive error,stereoacuity and oscillopia,was summarized.Informed consent from all patients and custodian were obtained. Results The age distribution of most patients was ＞5-10 years and ＞ 15-20 years,with the percentage 24.73％ and 24.20％,respectively.Of 376 patients,sensory defect nystagmus was 172 cases,and that of motor sensory defect was 204 cases.The most common inheritance pattern was autosomal dominant.Conjugate uniplanar horizontal oscillations were found in 73.94％patients,and strabismus was found in 66.36％ in this study.Sensory defected subjects did not show a statistically significantly higher strabismus incidence when compared with the idiopaths (x2 =3.048,P =0.081 ).The binocular distance vision in all the subjects was declined in comparison with normal eyes,the best corrected vision was 0.27 ±0.11 and 0.50± 0.13 in sensory defected nystagmus and idiopaths nystagmus respectively,showing a significant difference( t =16.495,P =0.000 ).The incidence of refractive error in this study was 77.62％.Incidence of astigmatism(75.17％ ) was higher than that of myopia and hyperopia ( 39.03％ and 36.12％ ).No significant difference was seen in refractive error incidence between the sensory defected and the idiopaths (x2 =1.337,P =0.248).Patients of 65.18％ displayed non-stereoacuity or very gross acuity levels (3000) in this study,and the patients with idiopathic nystagmus showed better stereoacuity level in comparison with sensory defected ones (x2 =7.058,P =0.008 ).Five of 313 patients existed experienced oscilopla under binocular viewing conditions.Conclusions Autosomal dominant inheritance is the most common pattern of congenital nystagmus.Conjugate uniplanar horizontal oscillation is thought to be a common type of nystagmus.Incidence of strabismus is higher,and visual acuity and stereoaeuity are worse in congenital nystagmus than in common population.Oscillopia is seldom found in congenital nystagmus.

Síndrome de Seckel, dos casos en una familia colombiana / Seckel syndrome: report of two cases in a Colombian family

Seckel syndrome is an infrequent autosomic recessive genetic disorder. It is characterized by short stature, mental retardation and a typical facies. Nearly 10 families have been reported with two or more affected members. This paper reports two sisters, daughters of non-related parents. The mother presented bilateral fissurate lip. The main traits of this syndrome are highlighted through a literature review.

El síndrome de Seckel es una enfermedad genética de herencia autosómica recesiva de baja ocurrencia, caracterizado por la asociación de talla baja, retardo mental y facies especial, se han reportado cerca de 10 familias con dos o más miembros afectados. Nosotros reportamos dos hermanas hijas de padres no consanguíneas, la madre presenta labio fisurado bilateral. Se describen las características más importantes del síndrome y se hace una revisión de la literatura.

Analysis of Inheritance in Infantile Nystagmus

Infantile nystagmus is characterized by involuntary oscillations of one or both eyes being present at birth or shortly thereafter without systemic or ophthalmologic lesions. Its inheritance pattern is not known exactly, but three types have been distinguished; irregular dominant, sex linked recessive, and simple recessive patterns. We observed 15 patients with family history and analyzed the characteristics of their inheritance patterns. We concluded the patterns of inheritance are irregular X-linked or autosomal dominant inheritance with incomplete penetrance in 7 families(47%), X-linked recessive or autosomal dominant inheritance in 5 families(33%), and autosomal dominant inheritance in 3 families(20%), respectively.