Food choices and practices during pregnancy of immigrant and Aboriginal women in Canada: a study protocol

Abstract Background Facilitating the provision of appropriate health care for immigrant and Aboriginal populations in Canada is critical for maximizing health potential and well-being. Numerous reports describe heightened risks of poor maternal and birth outcomes for immigrant and Aboriginal women. Many of these outcomes may relate to food consumption/practices and thus may be obviated through provision of resources which suit the women's ethnocultural preferences. This project aims to understand ethnocultural food and health practices of Aboriginal and immigrant women, and how these intersect with respect to the legacy of Aboriginal colonialism and to the social contexts of cultural adaptation and adjustment of immigrants. The findings will inform the development of visual tools for health promotion by practitioners. Methods/Design This four-phase study employs a case study design allowing for multiple means of data collection and different units of analysis. Phase 1 consists of a scoping review of the literature. Phases 2 and 3 incorporate pictorial representations of food choices (photovoice in Phase 2) with semi-structured photo-elicited interviews (in Phase 3). The findings from Phases 1-3 and consultations with key stakeholders will generate key understandings for Phase 4, the production of culturally appropriate visual tools. For the scoping review, an emerging methodological framework will be utilized in addition to systematic review guidelines. A research librarian will assist with the search strategy and retrieval of literature. For Phases 2 and 3, recruitment of 20-24 women will be facilitated by team member affiliations at perinatal clinics in one of the city's most diverse neighbourhoods. The interviews will reveal culturally normative practices surrounding maternal food choices and consumption, including how women negotiate these practices within their own worldview and experiences. A structured and comprehensive integrated knowledge translation plan has been formulated. Discussion The findings of this study will provide practitioners with an understanding of the cultural differences that affect women's dietary choices during maternity. We expect that the developed resources will be of immediate use within the women's units and will enhance counseling efforts. Wide dissemination of outputs may have a greater long term impact in the primary and secondary prevention of these high risk conditions.

Low dynamic muscle strength and its associations with fatigue, functional performance, and quality of life in premenopausal patients with systemic lupus erythematosus and low disease activity: a case–control study

Abstract Background The purpose of the present study was to compare dynamic muscle strength, functional performance, fatigue, and quality of life in premenopausal systemic lupus erythematosus (SLE) patients with low disease activity versus matched-healthy controls and to determine the association of dynamic muscle strength with fatigue, functional performance, and quality of life in SLE patients. Methods We evaluated premenopausal (18–45 years) SLE patients with low disease activity (Systemic lupus erythematosus disease activity index [SLEDAI]: mean 1.5 ± 1.2). The control (n = 25) and patient (n = 25) groups were matched by age, physical characteristics, and the level of physical activities in daily life (International Physical Activity Questionnaire IPAQ). Both groups had not participated in regular exercise programs for at least six months prior to the study. Dynamic muscle strength was assessed by one-repetition maximum (1-RM) tests. Functional performance was assessed by the Timed Up and Go (TUG), in 30-s test a chair stand and arm curl using a 2-kg dumbbell and balance test, handgrip strength and a sit-and-reach flexibility test. Quality of life (SF-36) and fatigue were also measured. Results The SLE patients showed significantly lower dynamic muscle strength in all exercises (leg press 25.63%, leg extension 11.19%, leg curl 15.71%, chest press 18.33%, lat pulldown 13.56%, 1-RM total load 18.12%, P < 0.001-0.02) compared to the controls. The SLE patients also had lower functional performance, greater fatigue and poorer quality of life. In addition, fatigue, SF-36 and functional performance accounted for 52% of the variance in dynamic muscle strength in the SLE patients. Conclusions Premenopausal SLE patients with low disease activity showed lower dynamic muscle strength, along with increased fatigue, reduced functional performance, and poorer quality of life when compared to matched controls.

A resource management scenario for traditional and scientific management of pink shrimp (Farfantepenaeus paulensis) in the Patos Lagoon estuary (RS), Brazil

Abstract Background This article aims to discuss the incorporation of traditional time in the construction of a management scenario for pink shrimp in the Patos Lagoon estuary (RS), Brazil. To meet this objective, two procedures have been adopted; one at a conceptual level and another at a methodological level. At the conceptual level, the concept of traditional time as a form of traditional ecological knowledge (TEK) was adopted. Method At the methodological level, we conduct a wide literature review of the scientific knowledge (SK) that guides recommendations for pink shrimp management by restricting the fishing season in the Patos Lagoon estuary; in addition, we review the ethno-scientific literature which describes traditional calendars as a management base for artisanal fishers in the Patos Lagoon estuary. Results Results demonstrate that TEK and SK describe similar estuarine biological processes, but are incommensurable at a resource management level. On the other hand, the construction of a “management scenario” for pink shrimp is possible through the development of “criteria for hierarchies of validity” which arise from a productive dialog between SK and TEK. Conclusions The commensurable and the incommensurable levels reveal different basis of time-space perceptions between traditional ecological knowledge and scientific knowledge. Despite incommensurability at the management level, it is possible to establish guidelines for the construction of “management scenarios” and to support a co-management process.

Two new species and a review of the inseminating freshwater fish genus Monotocheirodon (Characiformes: Characidae) from Peru and Bolivia

Two new species of inseminating freshwater fishes of the genus Monotocheirodon, family Characidae, are described from Peru. Males and females of both new species have an external, visually obvious urogenital papilla that was not detected in the females in previous studies, with this longer in males, which use it as an inseminating organ. A third inseminating species from Bolivia, Monotocheirodon pearsoni, unstudied in any detail since its original description in 1924, is redescribed. This latter species lacks an inseminating organ. Monotocheirodon is redescribed, its phylogenetic relationships are briefly discussed and it is suggested that it is possibly related to the stevardiin genera Ceratobranchia, Othonocheirodus, and Odontostoechus.

Cem anos do direito internacional público (1913) de José mendes (1861-1918) – olhar reflexivo sobre o direito internacional nas arcadas (1911-1918)

Ensino do Direito internacional nas arcadas – José Mendes foi professor ordinário da disciplina (1911-1918) – sua obra Direito internacional público – preleções (1913) completa cem anos de publicação.

A cátedra UNESCO de direito à educação da Faculdade de Direito: democracia, cidadania e direito à educação

Regimes democráticos se consolidam na medida de sua aceitação pela maioria, o que supõe conhecimento e confiança nas instituições políticas e jurídicas. A educação de qualidade é relevante para a governança democrática e para a formação da cidadania, posto propiciar o acesso a ferramentas cognitivas necessárias para a participação política relevante. As interações entre a democracia, o direito à educação e as políticas públicas de educação são analisadas pela Cátedra UNESCO no projeto de pesquisa “Brasil 25 anos de democracia” sob o ângulo da função promocional do Direito à Educação da FD, em parceria com o Núcleo de Políticas Públicas da USP, com. O foco da pesquisa é a atividade do Supremo Tribunal Federal (STF), a do Superior Tribunal de Justiça (STJ) e a do Congresso Nacional, no período compreendido entre os anos 2000 e 2010.

IMBER mini-Symposium with Spanish oceanographers

Celebrado en la Sala de Grado de la Facultad de Ciencias del Mar (ULPGC) el 18 de junio de 2013

Plataforma modular para la gestión de ponencias de congresos internacionales

[ES] La organización de congresos internacionales incluye un conjunto amplio de tareas diversas, de variadas naturalezas. Algunas de ellas requieren una supervisión cuidadosa al ser factor determinante del éxito del congreso. Es posible que la tarea y delicada más compleja sea la organización del programa científico del evento, porque requiere satisfacer las necesidades, a veces contrapuestas, de muchas personas diferentes, con diferentes roles de participación en el mismo. Las necesidades de un asistente son totalmente diferentes a las de un ponente, las de un revisor, o a las del Program Chair del evento. El asistente requiere recibir una información en el formato publicitado por el congreso, tal vez poder participar en discusiones o debates, y recibir una documentación en forma de actas, libro de abstracts, etc. Un autor requiere poder enviar para consideración un abstract o un artículo, recibir el resultado de la evaluación del mismo y poder, si es aceptado, subir el artículo definitivo, conocer cuándo tendrá lugar su comunicación, etc. Para complicar más las cosas, puede darse el caso, y se da con frecuencia, que las mismas personas actúan en el congreso con más de un rol diferente. El propósito de este TFG no puede ser abarcar toda esta problemática, dada la fuerte restricción temporal de los Trabajos fin de Grado. Este TFG trata de esbozar un prototipo que pueda ser extendido con posterioridad este trabajo, donde se presente un prototipo con el esqueleto y estructura fundamental de una aplicación futura que englobe el máximo de elementos de la organización del congreso. También se pretende que se desarrollen dos módulos fundamentales: un módulo para la gestión de usuarios y roles, asumiendo que podemos definir ya los roles, vistas y privilegios.

Controllo dell'atto di prensione: coinvolgimento dell'area V6A nell'orientamento del polso

Prehension in an act of coordinated reaching and grasping. The reaching component is concerned with bringing the hand to object to be grasped (transport phase); the grasping component refers to the shaping of the hand according to the object features (grasping phase) (Jeannerod, 1981). Reaching and grasping involve different muscles, proximal and distal muscles respectively, and are controlled by different parietofrontal circuit (Jeannerod et al., 1995): a medial circuit, involving area of superior parietal lobule and dorsal premotor area 6 (PMd) (dorsomedial visual stream), is mainly concerned with reaching; a lateral circuit, involving the inferior parietal lobule and ventral premotor area 6 (PMv) (dorsolateral visual stream), with grasping. Area V6A is located in the caudalmost part of the superior parietal lobule, so it belongs to the dorsomedial visual stream; it contains neurons sensitive to visual stimuli (Galletti et al. 1993, 1996, 1999) as well as cells sensitive to the direction of gaze (Galletti et al. 1995) and cells showing saccade-related activity (Nakamura et al. 1999; Kutz et al. 2003). Area V6A contains also arm-reaching neurons likely involved in the control of the direction of the arm during movements towards objects in the peripersonal space (Galletti et al. 1997; Fattori et al. 2001). The present results confirm this finding and demonstrate that during the reach-to-grasp the V6A neurons are also modulated by the orientation of the wrist. Experiments were approved by the Bioethical Committee of the University of Bologna and were performed in accordance with National laws on care and use of laboratory animals and with the European Communities Council Directive of 24th November 1986 (86/609/EEC), recently revised by the Council of Europe guidelines (Appendix A of Convention ETS 123). Experiments were performed in two awake Macaca fascicularis. Each monkey was trained to sit in a primate chair with the head restrained to perform reaching and grasping arm movements in complete darkness while gazing a small fixation point. The object to be grasped was a handle that could have different orientation. We recorded neural activity from 163 neurons of the anterior parietal sulcus; 116/163 (71%) neurons were modulated by the reach-to-grasp task during the execution of the forward movements toward the target (epoch MOV), 111/163 (68%) during the pulling of the handle (epoch HOLD) and 102/163 during the execution of backward movements (epoch M2) (t_test, p ≤ 0.05). About the 45% of the tested cells turned out to be sensitive to the orientation of the handle (one way ANOVA, p ≤ 0.05). To study how the distal components of the movement, such as the hand preshaping during the reaching of the handle, could influence the neuronal discharge, we compared the neuronal activity during the reaching movements towards the same spatial location in reach-to-point and reach-to-grasp tasks. Both tasks required proximal arm movements; only the reach-to-grasp task required distal movements to orient the wrist and to shape the hand to grasp the handle. The 56% of V6A cells showed significant differences in the neural discharge (one way ANOVA, p ≤ 0.05) between the reach-to-point and the reach-to-grasp tasks during MOV, 54% during HOLD and 52% during M2. These data show that reaching and grasping are processed by the same population of neurons, providing evidence that the coordination of reaching and grasping takes place much earlier than previously thought, i.e., in the parieto-occipital cortex. The data here reported are in agreement with results of lesions to the medial posterior parietal cortex in both monkeys and humans, and with recent imaging data in humans, all of them indicating a functional coupling in the control of reaching and grasping by the medial parietofrontal circuit.

The Integrated European Project "GEHA - GEnetics of Healthy Aging": recruitment, health status assessment and survival of the Italian 90+ sibpairs

The present study is part of the EU Integrated Project “GEHA – Genetics of Healthy Aging” (Franceschi C et al., Ann N Y Acad Sci. 1100: 21-45, 2007), whose aim is to identify genes involved in healthy aging and longevity, which allow individuals to survive to advanced age in good cognitive and physical function and in the absence of major age-related diseases. Aims The major aims of this thesis were the following: 1. to outline the recruitment procedure of 90+ Italian siblings performed by the recruiting units of the University of Bologna (UNIBO) and Rome (ISS). The procedures related to the following items necessary to perform the study were described and commented: identification of the eligible area for recruitment, demographic aspects related to the need of getting census lists of 90+siblings, mail and phone contact with 90+ subjects and their families, bioethics aspects of the whole procedure, standardization of the recruitment methodology and set-up of a detailed flow chart to be followed by the European recruitment centres (obtainment of the informed consent form, anonimization of data by using a special code, how to perform the interview, how to collect the blood, how to enter data in the GEHA Phenotypic Data Base hosted at Odense). 2. to provide an overview of the phenotypic characteristics of 90+ Italian siblings recruited by the recruiting units of the University of Bologna (UNIBO) and Rome (ISS). The following items were addressed: socio-demographic characteristics, health status, cognitive assessment, physical conditions (handgrip strength test, chair-stand test, physical ability including ADL, vision and hearing ability, movement ability and doing light housework), life-style information (smoking and drinking habits) and subjective well-being (attitude towards life). Moreover, haematological parameters collected in the 90+ sibpairs as optional parameters by the Bologna and Rome recruiting units were used for a more comprehensive evaluation of the results obtained using the above mentioned phenotypic characteristics reported in the GEHA questionnaire. 3. to assess 90+ Italian siblings as far as their health/functional status is concerned on the basis of three classification methods proposed in previous studies on centenarians, which are based on: • actual functional capabilities (ADL, SMMSE, visual and hearing abilities) (Gondo et al., J Gerontol. 61A (3): 305-310, 2006); • actual functional capabilities and morbidity (ADL, ability to walk, SMMSE, presence of cancer, ictus, renal failure, anaemia, and liver diseases) (Franceschi et al., Aging Clin Exp Res, 12:77-84, 2000); • retrospectively collected data about past history of morbidity and age of disease onset (hypertension, heart disease, diabetes, stroke, cancer, osteopororis, neurological diseases, chronic obstructive pulmonary disease and ocular diseases) (Evert et al., J Gerontol A Biol Sci Med Sci. 58A (3): 232-237, 2003). Firstly these available models to define the health status of long-living subjects were applied to the sample and, since the classifications by Gondo and Franceschi are both based on the present functional status, they were compared in order to better recognize the healthy aging phenotype and to identify the best group of 90+ subjects out of the entire studied population. 4. to investigate the concordance of health and functional status among 90+ siblings in order to divide sibpairs in three categories: the best (both sibs are in good shape), the worst (both sibs are in bad shape) and an intermediate group (one sib is in good shape and the other is in bad shape). Moreover, the evaluation wanted to discover which variables are concordant among siblings; thus, concordant variables could be considered as familiar variables (determined by the environment or by genetics). 5. to perform a survival analysis by using mortality data at 1st January 2009 from the follow-up as the main outcome and selected functional and clinical parameters as explanatory variables. Methods A total of 765 90+ Italian subjects recruited by UNIBO (549 90+ siblings, belonging to 258 families) and ISS (216 90+ siblings, belonging to 106 families) recruiting units are included in the analysis. Each subject was interviewed according to a standardized questionnaire, comprising extensively utilized questions that have been validated in previous European studies on elderly subjects and covering demographic information, life style, living conditions, cognitive status (SMMSE), mood, health status and anthropometric measurements. Moreover, subjects were asked to perform some physical tests (Hand Grip Strength test and Chair Standing test) and a sample of about 24 mL of blood was collected and then processed according to a common protocol for the preparation and storage of DNA aliquots. Results From the analysis the main findings are the following: - a standardized protocol to assess cognitive status, physical performances and health status of European nonagenarian subjects was set up, in respect to ethical requirements, and it is available as a reference for other studies in this field; - GEHA families are enriched in long-living members and extreme survival, and represent an appropriate model for the identification of genes involved in healthy aging and longevity; - two simplified sets of criteria to classify 90+ sibling according to their health status were proposed, as operational tools for distinguishing healthy from non healthy subjects; - cognitive and functional parameters have a major role in categorizing 90+ siblings for the health status; - parameters such as education and good physical abilities (500 metres walking ability, going up and down the stairs ability, high scores at hand grip and chair stand tests) are associated with a good health status (defined as “cognitive unimpairment and absence of disability”); - male nonagenarians show a more homogeneous phenotype than females, and, though far fewer in number, tend to be healthier than females; - in males the good health status is not protective for survival, confirming the male-female health survival paradox; - survival after age 90 was dependent mainly on intact cognitive status and absence of functional disabilities; - haemoglobin and creatinine levels are both associated with longevity; - the most concordant items among 90+ siblings are related to the functional status, indicating that they contain a familiar component. It is still to be investigated at what level this familiar component is determined by genetics or by environment or by the interaction between genetics, environment and chance (and at what level). Conclusions In conclusion, we could state that this study, in accordance with the main objectives of the whole GEHA project, represents one of the first attempt to identify the biological and non biological determinants of successful/unsuccessful aging and longevity. Here, the analysis was performed on 90+ siblings recruited in Northern and Central Italy and it could be used as a reference for others studies in this field on Italian population. Moreover, it contributed to the definition of “successful” and “unsuccessful” aging and categorising a very large cohort of our most elderly subjects into “successful” and “unsuccessful” groups provided an unrivalled opportunity to detect some of the basic genetic/molecular mechanisms which underpin good health as opposed to chronic disability. Discoveries in the topic of the biological determinants of healthy aging represent a real possibility to identify new markers to be utilized for the identification of subgroups of old European citizens having a higher risk to develop age-related diseases and disabilities and to direct major preventive medicine strategies for the new epidemic of chronic disease in the 21st century.

Longevity and stroke: a study on 1.176 GeHA 90+ Italian sibs

Preface: The improvements of the social-environmental conditions, and medical cares and the quality of life caused a general improvement of the health status of the population, with a consequent reduction of the overall morbidity and mortality, resulting in an increase of life expectancy that has rose dramatically in the last century. Stroke represents the 3rd cause of death and 1st cause of disability in Europe and in Italy. Aim: The aim of this research is to explore the prevalence of stroke in 1.176 90+ Italian sibs, collected from the north, centre and south of the peninsula, and examine the presence of functional and cognitive disability in the stroke affected sibs. Materials and Methods: We divided our sample in three main categories a)Stroke free(960 subjects, 88.72%), b)Young age stroke, reported age of Stroke incidence < 85 y.o.(42 subjects, 3.88%), c)Old age stroke, reported age of Stroke incidence ≥ 85y.o.(80 subjects, 7.39%). We examine cognitive impairment using the MMSE and functional disability using the ADL scale, the chair stand and hand-grip test. The three groups for each test have been analysed according the following parameters: age at interview, sex, ability to understand the questions, can the participant walk 500 m without help, smoke habit, alcohol daily consumption, presence of serious memory impairments (e.g. dementia), Daily Exercise or daily light housework, History of arthritis. Results: After performing mulrivariate analysis, amazingly the young ictus group had worst performance in all the cognitive and functional variables.

Discotic materials for organic electronics

Die Kontrolle der ausgeprägten Aggregationsfähigkeit von alkylsubstituierten Hexa-peri-hexabenzocoronenen (HBC) wurde durch die Reduktion der intermolekularen Wechselwirkungen erreicht. Sterisch anspruchsvolle, verzweigte Alkylketten, mit einem Verzweigungspunkt naher des aromatischen Kerns, wurden in die Corona der aromatischen Scheiben eingebracht und verleihen den Derivaten Schmelzbarkeit ohne thermische Zersetzung. Dies erlaubte eine kostengünstige Verarbeitungstechniken direkt aus der Schmelze wie z.B. Zonenschmelzen, um uniaxial organisierte makroskopische Filme zu erhalten. Abhängig von dem sterischen Anspruch, der durch die Seitenkette erzeugt wird, wurden unterschiedliche molekulare Orientierungen auf Oberflächen erhalten, was eine wichtige Voraussetzung ist, um diskotische Materialien in elektronische Bauteile zu implementieren. Eine weitere Voraussetzung sind hohe Ladungsträgerbeweglichkeiten und Ladungsträgerlebenszeiten in den Halbleitermaterialien, die mit time-resolved pulse-radiolysis microwave conductivity (TR-PRMC) und time-of-flight (TOF) auch für die synthetisieren Materialien bestimmt wurden. Die neuen Materialien zeigten bereits in organischen Solarzellen gute Leistungen. Den Einfluss des Perimeters auf die elektronischen Eigenschaften der polyzyklischen aromatischen Kohlenwasserstoffe (PAKs) wurde theoretisch vorhergesagt und in dieser Arbeit durch die Synthese einer homologe Serie von PAKs experimentell bestätigt. Geht man von der „arm-chair“ Peripherie des HBC sukzessive zu einer partiellen „zickzack“ Peripherie, so findet man eine Abhängigkeit der elektronischen Banden von Symmetrie und Größe des aromatischen Systems. Die spontan ausgebildete Überstruktur dieser Derivate zeigte eine Abhängigkeit von Substitutionsmuster und der Natur der Alkylketten. Zusammenfassend wurden neben der Synthese von neuartigen Materialien für den Einsatz in der organischen Elektronik Synthesen entwickelt, die eine vereinfachte Funktionalisierung von ausgedehnten PAKs ermöglicht. Diese Konzepte erlauben eine Justierung der molekularen und supramolekularen Eigenschaften, eines der wichtigsten Voraussetzungen für den Einsatz von Materialien in elektronischen Bauelementen.

Il trattamento ortodontico nei bambini con particolari necessità sanitarie (SHCN): una valutazione della durata e del risultato clinico utilizzando l'indice PAR (Peer Assessment Rating), la componente DHC (Dental Health Component) e la componente AC (Aesthetic Component) dell'indice IOTN (Orthodontic Treatment Need Index)

Obbiettivo: Valutazione delle eventuali differenze nel trattamento ortodontico di un gruppo di bambini con particolari necessità sanitarie (SHCN) rispetto ad un gruppo di bambini non diagnosticati con SHCN. Materiali e Metodi: Il gruppo campione (SHCN) è costituito da 50 bambini con SHCN. Il gruppo di controllo (NO SHCN) è costituito da 50 bambini non diagnosticati con SHCN pienamente corrispondenti per età, genere e tipo di apparecchio ortodontico utilizzato con i pazienti del gruppo di studio. I dati riguardanti i gruppi SHCN e NO SHCN sono stati analizzati in modo retrospettivo, valutando: - il punteggio pre- e post-trattamento e la riduzione finale dei valori dell'indice PAR (Peer Assessment Rating), della componente DHC (Dental Health Component) e della componente AC (Aesthetic Component) dell'indice IOTN (Orthodontic Treatment Need Index), - il numero di appuntamenti, - il numero di sedute semplici e complesse, - la durata complessiva del trattamento, - l'età all’inizio ed alla fine della terapia. Risultati: Non sono state rilevate differenze statisticamente significative tra i due gruppi per quanto concerne il numero di appuntamenti, la durata complessiva del trattamento, l'età all’inizio ed alla fine della terapia ortodontica (valori del p-value:0.682, 0.458, 0.535, 0.675). Sono state rilevate differenze statisticamente significative tra i due gruppi per quanto riguarda i punteggi dell’indice PAR, delle componenti DHC e AC dello IOTN pre- e post-trattamento, il numero di sedute semplici e complesse (valori del p-value:0.030, 0.000, 0.020, 0.023, 0.000, 0.000, 0.043, 0.037). Per quanto concerne la riduzione finale del valore dell’indice PAR, della componente DHC e di quella AC dello IOTN non sono state riscontrate differenze statisticamente significative tra i due gruppi (valori del p-value:0.060, 0.765, 0.825). Conclusioni: Lo studio incoraggia gli ortodontisti a trattare i bambini con SHCN nell'obiettivo di migliorarne la qualità di vita, pur evidenziando la necessità di un maggior numero di sedute complesse.

Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study

Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G is associated with respiratory chain complex I deficiency and has been described as a rare cause of mostly adult-onset slowly progressive myopathy. Five families with 11 patients have been described so far; 5 of them died young due to cardiorespiratory failure. Here, we report on a segregation study in a family with an index patient who already presented at the age of 18 months with proximal muscular hypotonia, abnormal fatigability, and lactic acidosis. This early-onset myopathy was rapidly progressive. At 8 years, the patient is wheel-chair bound, requires nocturnal assisted ventilation, and suffers from recurrent respiratory infections. Severe complex I deficiency and nearly homoplasmy for m.3302A > G were found in muscle. We collected blood, hair, buccal swabs and muscle biopsies from asymptomatic adults in this pedigree and determined heteroplasmy levels in these tissues as well as OXPHOS activities in muscle. All participating asymptomatic adults had normal OXPHOS activities. In contrast to earlier reports, we found surprisingly little variation of heteroplasmy levels in different tissues of the same individual. Up to 45% mutation load in muscle and up to 38% mutation load in other tissues were found in non-affected adults. The phenotypic spectrum of tRNA(Leu(UUR)) m.3302A > G mutation seems to be wider than previously described. A threshold of more than 45% heteroplasmy in muscle seems to be necessary to alter complex I activity leading to clinical manifestation. The presented data may be helpful for prognostic considerations and counseling in affected families.

Pistol thrown to the ground by shooter after fatal self inflicted gunshot wound to the chest

We report the case of a 46-year-old man found dead in his apartment in a chair with a gunshot wound in his chest. All circumstances pointed to suicide as the manner of death. Finding the weapon, a SIG Sauer P228 pistol, about 2 m away from the decedent with an obstacle between weapon and corpse however generated speculation about third party involvement. Scene investigations and ballistic calculations showed that with a high probability the weapon must have been purposefully thrown away by the decedent after he fired the lethal gunshot.