Dynamic reanimation of severe blepharoptosis using the neurotized omohyoid muscle graft.

BACKGROUND: Attempts at dynamic reconstruction of the upper eyelid either by neurotization or direct muscle replacement have been scarce. Substitution of the levator palpebrae superioris muscle requires the use of extremely small and pliable structures. As a proof of concept/pilot study, we present a consecutive series of patients who underwent blepharoptosis correction using the neurotized omohyoid muscle graft. METHODS: Retrospective analysis of patients receiving a neurotized omohyoid muscle graft for levator palpebralis substitution between January and December 2019. RESULTS: Five patients were operated (2 male, 3 female); median age was 35.5 years. Median palpebral aperture was 0 mm and levator function was< 1 mm in all cases. Median denervation time for the levator muscle was 9 years. All surgeries were uneventful, and no postoperative complications were seen. Twelve months after the procedure, all patients presented with adequate palpebral aperture on activation of the spinal nerve. Median palpebral aperture was 6.5 mm Postoperative electromyography revealed muscle contraction when stimulation was applied to the spinal nerve. CONCLUSION: This study introduces the concept of severe blepharoptosis correction using the omohyoid muscle. We believe that with time and further technical refinements it could become an invaluable tool in eyelid reconstruction surgery.

Síndrome de interrupción del tallo pituitario: Relaciones clínicas, bioquímicas y neurorradiológicas / Pituitary stalk interruption syndrome: Clinical, biochemical and neuroradiological relationships

El síndrome de interrupción del tallo pituitario (PSIS) se caracteriza por la demostración neurorradiológica de un tallo pituitario ausente, interrumpido o hipoplásico, adenohipófisis aplásica/hipoplásica o neurohipófisis ectópica. Este síndrome se ha relacionado con formas severas de hipopituitarismo congénito (HPC), asociado a múltiples deficiencias de hormonas pituitarias (MPHD). Evaluamos a pacientes con HPC y PSIS, analizando los signos y los síntomas neonatales al diagnóstico, relacionándolos con las deficiencias hormonales pituitarias y signos neurorradiológicos presentes. Estudiamos retrospectivamente a 80 pacientes asistidos en el Hospital de Niños de Córdoba, con diagnóstico de HPC, de los cuales 42 (52%) presentaron PSIS; 22 mujeres y 20 varones, EC: 5 días-9,5 años. El 62% presentó MPHD y el 38% insuficiencia somatotrófica aislada (IGHD). El análisis de las variables perinatales demostró antecedentes de parto natural en el 52% (11/21) de las MPHD vs. 13% (2/15) de las IGHD. Cuatro pacientes, 2 con MPHD y 2 con IGHD presentaban antecedentes obstétricos consistentes en presentación podálica y transversa respectivamente, todos ellos resueltos mediante operación cesárea. Los signos y los síntomas perinatales fueron hipo- glucemia: 61% en MPHD vs. 19% en IGHD, p: 0,0105; ictericia: 38% en MPHD vs. 25% en IGHD; micropene: 77% en MPHD y colestasis: 19% en MPHD. Convulsiones neonatales se presentaron en el 75% de los niños con MPHD e hipoglucemia. EC media de consulta: 2,1 años en MPHD (30% en el período neonatal, 70% antes de 2 años) y 3,6 años en IGHD (44% en menores de 2 años). Los pacientes con MPHD presentaban: tallo no visible 81% (n: 21/26) vs. tallo hipoplásico: 19% (n: 5/26), p: 0,0001; en IGHD 56% (n: 9/16) vs. 44% (n: 7/16), p: 0,5067, respectivamente. El 100% de los neonatos con HPC tenían tallo pituitario ausente. Concluimos que la demostración de PSIS en niños con HPC proporciona información valiosa como predictor de la severidad fenotípica, la presencia de MPHD y de la respuesta al tratamiento. La baja frecuencia de antecedentes obstétricos posicionales potencialmente distócicos, como parte de los mecanismos fisiopatogénicos responsables de PSIS, indicaría la necesidad de analizar la importancia de posibles factores genéticos y epigenéticos involucrados. El diagnóstico precoz de HPC debe sospecharse en presencia de signos y síntomas clínicos, tales como hipoglucemia, colestasis, micropene y defectos asociados en la línea media facial. La resonancia magnética cerebral debe formar parte de los estudios complementarios en pacientes con esta presunción diagnóstica, especialmente a edades tempranas. El reconocimiento tardío de esta entidad puede aumentar la morbilidad y la mortalidad con efectos potenciales deletéreos y permanentes.

Pituitary stalk interruption syndrome (PSIS) is characterised by the combination of an interrupted or thin pituitary stalk, absent or ectopic posterior pituitary, and anterior pituitary hypoplasia. It is manifested as isolated (IGHD) or combined pituitary hormone deficiencies (CPHD) of variable degrees and timing of onset, with a wide spectrum of clinical phenotypes. PSIS may be an isolated morphological abnormality or be part of a syndrome. A retrospective evaluation is presented of clinical signs and symptoms present at early life stages, as well as an analysis of their relationship with hormone laboratory tests and diagnostic imaging in children with congenital hypopituitarism (CHP), and PSIS. This study was performed in a single centre on a sample of 42 children out of a total of 80 CHP patients, with a chronological age range between 5 days and 9.5 years from a database analysed over a period of 26 years. The study included 26/42 (62%) with CPHD and 16/42 (38%) with IGHD. The analysis of perinatal variables showed a natural delivery in 52% (11/21) of CPHD vs 13% (2/15) of IGHD. Four patients, two with CPHD and two IGHD had breech and transverse presentation respectively. All of them were resolved by caesarean section. The perinatal histories showed hypoglycaemia (61% CPHD vs 19% IGHD, P=.0105), jaundice (38% CPHDvs25% IGHD), micropenis (75%CPHD), hypoglycaemic seizures (75% CPHD), and cholestasis (19% CPHD). The mean CA of consulting for CPHD patients was 2.1 years, 30% in neonatal period and 70% before 2 years. The mean chronical age (CA) was 3.6 years in IGHD patients, with 44% of them less than 2 years. MRI showed that 81% of CPHD patients had absence of pituitary stalk vs 19% with thin pituitary stalk (P=.0001); Patients with IGHD presented 56% absence of pituitary stalk vs 44% with thin pituitary stalk (P=.5067). All (100%) of the patients diagnosed in the neonatal stage had absent pituitary stalk. The characterisation of GH deficient patients by presence and type of hypothalamic-pituitary imaging abnormality provides valuable information as a predictor of phenotypic severity, treatment response, and the potential to develop additional hormonal deficiencies. We conclude that demonstrating PSIS in children with HPC provides valuable information as a predictor of phenotypic severity, presence of MPHD, and response to treatment. The low frequency of potentially dysfunctional positional obstetric history, as part of the pathophysiological mechanisms responsible for PSIS, would indicate the need to analyse the importance of possible genetic and epigenetic factors involved. Early diagnosis of HPC should be suspected in the presence of clinical signs and symptoms, such as hypoglycaemia, cholestasis, micropenis, and associated facial midline defects. MRI should be part of complementary studies in patients with this diagnostic suspicion, especially at an early age. Late recognition of this entity may increase morbidity and mortality with potential permanent deleterious effects.

Dynamics of Perceived Exertion in Constant-Power Cycling: Time- and Workload-Dependent Thresholds.

PURPOSE: The purpose of this study was to test the dynamics of perceived exertion shifts (PES) as a function of time and workload during constant-power cycling. METHOD: Fifty-two participants assigned to 4 groups performed a cycling task at 4 different constant workloads corresponding to their individual rates of perceived exertion (RPEs = 13, 15, 17, and 19, respectively). PES ("increased"/"decreased" perceptions) without magnitude were reported when they occurred. PES "increased" percentages in different nonoverlapping temporal windows and for each workload were calculated to study the time- and workload-dependent relations, respectively. RESULTS: A fluctuating PES dynamic characterized the cycling at RPE-13 and RPE-15. In contrast, a nonfluctuating PES dynamic characterized the cycling at RPE-17 and RPE-19. A time-dependent PES threshold, manifested as a switch from PES fluctuating to nonfluctuating dynamics, emerged in the RPE-15 condition near volitional exhaustion. A workload-dependent PES threshold occurred from RPE-15 to RPE-17. CONCLUSIONS: Time- and workload-dependent thresholds were revealed studying the PES dynamics in constant cycling. Monitoring PES can complement or provide an alternative to the use of physiological measures for an accurate control of training workloads.

FoxA4 favours notochord formation by inhibiting contiguous mesodermal fates and restricts anterior neural development in Xenopus embryos.

In vertebrates, the embryonic dorsal midline is a crucial signalling centre that patterns the surrounding tissues during development. Members of the FoxA subfamily of transcription factors are expressed in the structures that compose this centre. Foxa2 is essential for dorsal midline development in mammals, since knock-out mouse embryos lack a definitive node, notochord and floor plate. The related gene foxA4 is only present in amphibians. Expression begins in the blastula -chordin and -noggin expressing centre (BCNE) and is later restricted to the dorsal midline derivatives of the Spemann's organiser. It was suggested that the early functions of mammalian foxa2 are carried out by foxA4 in frogs, but functional experiments were needed to test this hypothesis. Here, we show that some important dorsal midline functions of mammalian foxa2 are exerted by foxA4 in Xenopus. We provide new evidence that the latter prevents the respecification of dorsal midline precursors towards contiguous fates, inhibiting prechordal and paraxial mesoderm development in favour of the notochord. In addition, we show that foxA4 is required for the correct regionalisation and maintenance of the central nervous system. FoxA4 participates in constraining the prospective rostral forebrain territory during neural specification and is necessary for the correct segregation of the most anterior ectodermal derivatives, such as the cement gland and the pituitary anlagen. Moreover, the early expression of foxA4 in the BCNE (which contains precursors of the whole forebrain and most of the midbrain and hindbrain) is directly required to restrict anterior neural development.

An intact brachyury function is necessary to prevent spurious axial development in Xenopus laevis.

We have previously shown that the member of the HES family hairy2 induces the ectopic expression of dorsal markers when it is overexpressed in the ventral side of Xenopus embryos. Intriguingly, hairy2 represses the mesoderm transcription factor brachyury (bra) throughout its domain in the marginal zone. Here we show that in early gastrula, bra and hairy2 are expressed in complementary domains. Overexpression of bra repressed hairy2. Interference of bra function with a dominant-negative construct expanded the hairy2 domain and, like hairy2 overexpression, promoted ectopic expression of dorsal axial markers in the ventral side and induced secondary axes without head and notochord. Hairy2 depletion rescued the ectopic dorsal development induced by interference of bra function. We concluded that an intact bra function is necessary to exclude hairy2 expression from the non-organiser field, to impede the ectopic specification of dorsal axial fates and the appearance of incomplete secondary axes. This evidence supports a previously unrecognised role for bra in maintaining the dorsal fates inhibited in the ventral marginal zone, preventing the appearance of trunk duplications.

Diagnóstico serológico como indicador del control durante la vigilancia participativa de la transmisión de trypanosoma cruzi en Catamarca, Argentina / Serological diagnosis as a control indicator during the participatory monitoring of the transmission of trypanosoma cruzi in Catamarca, Argentina

INTRODUCCION: El control de la transmisión vectorial de Trypanosoma cruzi en la provincia de Catamarca tuvo un comienzo de gran impacto y su sostenimiento se realizó por un estilo de vigilancia de línea vertical, con lo que se logró un estado avanzado de control. En la década de los 90, debido a las acciones realizadas, se alcanzó el estado de interrupción de la transmisión vectorial y/o transfusional de Trypanosoma cruzi. Esta situación permitió que la provincia fuera catalogada como de mediano riesgo.OBJETIVO: Investigar cuál es el indicador apropiado para señalar el riesgo de reiniciar la transmisión de Trypanosoma cruzi durante la vigilancia participativa.METODOS: En San Isidro y Santa Rosa (Departamento Valle Viejo, Provincia de Catamarca), se realizó un estudio descriptivo retrospectivo y, simultáneamente, otro de corte transversal. Los estudios incluyeron análisis serológicos en niños de 0-14 años, vigilancia mediante búsqueda activa del vector por hora/hombre en las viviendas seleccionadas, análisis parasitológico de los triatominos capturados y encuestas a los pobladores. También hubo talleres comunitarios y capacitación de agentes sanitarios.RESULTADOS: Se determinó una seroprevalencia de 0% en San Isidro y de 0,59% en Santa Rosa. Si bien los indicadores entomológicos registraron infestación intradomicilio del 2%, en cambio, la infestación domiciliaria fue del 10% y 14%, respectivamente, acompañada de una caída importante de las acciones de vigilancia por parte del Estado y de la comunidad.CONCLUSIONES: Es necesaria una reinstalación inmediata de la vigilancia participativa activa para mejorar las medidas de prevención por parte de la comunidad y las acciones de control estatal por parte de los efectores locales, provinciales y nacionales. El Estado debe realizar el ataque químico en las viviendas de acuerdo con las técnicas operativas vigentes y debe intensificar las acciones de vigilancia con evaluaciones hora/hombre.

INTRODUCTION: The control of vectorial transmission of Trypanosoma cruzi in the province of Catamarca had at the beginning a great impact and then was supported by a vertical surveillance. In this way, an advanced control was achieved. The actions undertaken in the 90’s led to a state of interruption of vector transmision and/or transfussion of Trypanosoma cruzi. At that time the province was rated as medium risk.OBJECTIVE: To determine the appropiate indicator assessing the risk of transmission of Trypanosoma cruzi being restarted during the surveillance participation.METHODS: A descriptive retrospective study and, simultaneously, a cross-sectional study were conducted in San Isidro and Santa Rosa (Valle Viejo, Province of Catamarca), including serological tests for children aged 0-14 years, monitoring through active search of vector by man/hour method in the selected houses, parasitological study of captured triatomines and surveys to people living there. There were also community workshops and training of health workers.RESULTS: The seroprevalence was 0% in San Isidro and 0.59% in Santa Rosa. While entomological indicators collected indoors recorded 2%, in contrast, house infestation was 10% and 14% respectively, accompanied by a significant drop in the surveillance by the state and community.CONCLUSIONS: It is necessary to immediately re-establish an active participatory monitoring to improve community prevention measures and state surveillance through effectors at local, provincial and national level. The state should make a vector chemical attack at the houses according to current techniques and should intensify surveillance activities with evaluations using the man/hour method.

Diagnóstico serológico como indicador del control durante la vigilancia participativa de la transmisión de trypanosoma cruzi en Catamarca, Argentina / Serological diagnosis as a control indicator during the participatory monitoring of the transmission of trypanosoma cruzi in Catamarca, Argentina

INTRODUCCION: El control de la transmisión vectorial de Trypanosoma cruzi en la provincia de Catamarca tuvo un comienzo de gran impacto y su sostenimiento se realizó por un estilo de vigilancia de línea vertical, con lo que se logró un estado avanzado de control. En la década de los 90, debido a las acciones realizadas, se alcanzó el estado de interrupción de la transmisión vectorial y/o transfusional de Trypanosoma cruzi. Esta situación permitió que la provincia fuera catalogada como de mediano riesgo.OBJETIVO: Investigar cuál es el indicador apropiado para señalar el riesgo de reiniciar la transmisión de Trypanosoma cruzi durante la vigilancia participativa.METODOS: En San Isidro y Santa Rosa (Departamento Valle Viejo, Provincia de Catamarca), se realizó un estudio descriptivo retrospectivo y, simultáneamente, otro de corte transversal. Los estudios incluyeron análisis serológicos en niños de 0-14 años, vigilancia mediante búsqueda activa del vector por hora/hombre en las viviendas seleccionadas, análisis parasitológico de los triatominos capturados y encuestas a los pobladores. También hubo talleres comunitarios y capacitación de agentes sanitarios.RESULTADOS: Se determinó una seroprevalencia de 0% en San Isidro y de 0,59% en Santa Rosa. Si bien los indicadores entomológicos registraron infestación intradomicilio del 2%, en cambio, la infestación domiciliaria fue del 10% y 14%, respectivamente, acompañada de una caída importante de las acciones de vigilancia por parte del Estado y de la comunidad.CONCLUSIONES: Es necesaria una reinstalación inmediata de la vigilancia participativa activa para mejorar las medidas de prevención por parte de la comunidad y las acciones de control estatal por parte de los efectores locales, provinciales y nacionales. El Estado debe realizar el ataque químico en las viviendas de acuerdo con las técnicas operativas vigentes y debe intensificar las acciones de vigilancia con evaluaciones hora/hombre.

INTRODUCTION: The control of vectorial transmission of Trypanosoma cruzi in the province of Catamarca had at the beginning a great impact and then was supported by a vertical surveillance. In this way, an advanced control was achieved. The actions undertaken in the 90s led to a state of interruption of vector transmision and/or transfussion of Trypanosoma cruzi. At that time the province was rated as medium risk.OBJECTIVE: To determine the appropiate indicator assessing the risk of transmission of Trypanosoma cruzi being restarted during the surveillance participation.METHODS: A descriptive retrospective study and, simultaneously, a cross-sectional study were conducted in San Isidro and Santa Rosa (Valle Viejo, Province of Catamarca), including serological tests for children aged 0-14 years, monitoring through active search of vector by man/hour method in the selected houses, parasitological study of captured triatomines and surveys to people living there. There were also community workshops and training of health workers.RESULTS: The seroprevalence was 0% in San Isidro and 0.59% in Santa Rosa. While entomological indicators collected indoors recorded 2%, in contrast, house infestation was 10% and 14% respectively, accompanied by a significant drop in the surveillance by the state and community.CONCLUSIONS: It is necessary to immediately re-establish an active participatory monitoring to improve community prevention measures and state surveillance through effectors at local, provincial and national level. The state should make a vector chemical attack at the houses according to current techniques and should intensify surveillance activities with evaluations using the man/hour method.