Optical coherence tomography biomarkers in MYO7A-inherited retinal dystrophy: longitudinal study in pediatric patients.

PURPOSE: This study aims to answer a key question: is MYO7A-inherited retinal dystrophy (MYO7A-IRD) a photoreceptor-first or retinal pigment epithelium-first disease? A second aim was to determine the most useful biomarkers to monitor disease progression in pediatric patients with Usher syndrome type 1B (USH1) secondary to MYO7A mutation. METHODS: Fifty-two eyes from 26 patients with genetically-confirmed MYO7A-IRD underwent swept-source optical coherence tomography (SS-OCT). Structural abnormalities were evaluated and correlated with follow-up time and best corrected visual acuity (BCVA). All patients were evaluated at baseline and after ≥ 40 months of follow-up. RESULTS: The mean (SD) patient age was 9.92 (± 4.1) years. Mean follow-up time was 43 (± 3.2) months. At the final evaluation, the most common qualitative abnormalities in the subfoveal area were alterations in the photoreceptor outer segments (76.9% of eyes) and in the interdigitation zone (IZ) (80.8%). The presence of cystoid macular edema at baseline was independently associated with worse BCVA at the final assessment (increase in LogMAR estimate = 0.142; t(45.00) = 2.78, p = 0.009). The mean width of the ellipsoid and interdigitation zones decreased significantly (by 668 µm and 278 µm, respectively; both p < 0.001). CONCLUSION: This study shows that disruption of the photoreceptor outer segments and the IZ are the first alterations detected by SS-OCT in the early phases of MYO7A-IRD. These data highlight the potential value of measuring the width of the ellipsoid and IZ to evaluate disease progression. These findings also demonstrate the utility of monitoring for the emergence of cystic lesions as biomarkers of worse visual prognosis in patients with MYO7A-IRD.

Modified Montgomery thyroplasty: Customisation of the cartilage window according to laryngeal anatomy.

We described a Montgomery's thyroplasty using a set of measurement devices designed to achieve accurate individualised prosthesis placement. The objective of the present study was to describe the surgical techniques employed via a step-by-step video and show our results. In total, 42 modified thyroplasties were performed during the 10-year study period. The verification of both points: adequate location and size of the prosthesis are the keys to the success of this intervention. The individualisation of the cartilage window location produces optimal functional results in patients post-intervention in terms of the MPT, GRB score, and VHI-30.

Prevention of Neurological Sequelae in Preterm Infants.

BACKGROUND: Preterm birth is one of the world's critical health problems, with an incidence of 5% to 18% of living newborns according to various countries. White matter injuries due to preoligodendrocytes deficits cause hypomyelination in children born preterm. Preterm infants also have multiple neurodevelopmental sequelae due to prenatal and perinatal risk factors for brain damage. The purpose of this work was to explore the effects of the brain risk factors and MRI volumes and abnormalities on the posterior motor and cognitive development at 3 years of age. METHODS: A total of 166 preterm infants were examined before 4 months and clinical and MRI evaluations were performed. MRI showed abnormal findings in 89% of the infants. Parents of all infants were invited to receive the Katona neurohabilitation treatment. The parents of 128 infants accepted and received Katona's neurohabilitation treatment. The remaining 38 infants did not receive treatment for a variety of reasons. At the three-year follow-up, Bayley's II Mental Developmental Index (MDI) and the Psychomotor Developmental Index (PDI) were compared between treated and untreated subjects. RESULTS: The treated children had higher values of both indices than the untreated. Linear regression showed that the antecedents of placenta disorders and sepsis as well as volumes of the corpus callosum and of the left lateral ventricle significantly predicted both MDI and PDI, while Apgar < 7 and volume of the right lateral ventricle predicted the PDI. CONCLUSIONS: (1) The results indicate that preterm infants who received Katona's neurohabilitation procedure exhibited significantly better outcomes at 3 years of age compared to those who did not receive the treatment. (2) The presence of sepsis and the volumes of the corpus callosum and lateral ventricles at 3-4 months were significant predictors of the outcome at 3 years of age.

Adyuvant fractionated radiotherapy after resection of intracranial hemangiopericytoma.

AIM: Review of literature and adjuvant treatment in Hemangiopericytoma after complete resection. BACKGROUND: Intracranial hemangiopericytoma (HPC) is an uncommon malignant vascular tumor arising from mesenchymal cells with pericytic differentiation. Surgery remains the mainstay treatment, and adjuvant radiation therapy appears to be appropriate for patients with high grade tumors or incomplete resection. We present our experience and review of the literature. MATERIALS AND METHODS: We describe two cases of intracranial hemangiopericytoma located in the frontal lobe of the CNS. Both patients underwent complete tumor resection followed by adjuvant fractionated radiotherapy and completed treatment without interruptions. RESULTS: A local recurrence was observed in one of these cases and fractionated stereotactic radiotherapy was performed. Both patients are alive and disease has been under control up to date. CONCLUSION: The treatment of choice for intracranial hemangiopericytoma is a complete surgical resection as long as possible. Adjuvant radiotherapy of HPC can result in increased tumor control and should be considered as an effective treatment for patients with high grade or demonstrated residual tumor in the postoperative period. Salvage treatment using limited-field fractionated radiotherapy for local recurrence treatment is considered an acceptable option.

Hematoma subcapsular esplénico espontáneo y mononucleosis infecciosa: una asociación de interés para el cirujano

La rotura espontánea de bazo es una complicación infrecuente pero muy grave de la mononucleosis infecciosa. Dada la urgencia con la que suele presentarse tal situación, la esplenectomía suele ser la opción quirúrgica más utilizada. Presentamos el caso de un paciente en el que con el diagnóstico de rotura esplénica espontánea se somete a laparoscopia diagnóstica en la que se consigue la preservación del bazo con buena evolución clínica. A la luz de este paciente, consideramos que, en caso de estabilidad clínica y hematomas subcapsulares de bazo, la laparoscopia con preservación esplénica es una opción viable y con buenos resultados. (provisto por Infomedic International)

Spontaneous rupture of the spleen is a rare but very serious complication of infectious mononucleosis. Given the urgency with which such a situation usually presents, splenectomy is usually the most used surgical option. We present the case of a patient diagnosed with spontaneous splenic rupture who underwent diagnostic laparoscopy in which spleen preservation was achieved with good clinical evolution. In the light of this patient, we consider that, in the case of clinical stability and subcapsular haematomas of the spleen, laparoscopy with splenic preservation is a viable option with good results. (provided by Infomedic International)

[Ankle-brachial index to detect peripheral arterial disease: concordance and validation study between Doppler and an oscillometric device]. / Indice tobillo-brazo en la detección de arteriopatía periférica: estudio de validez y concordancia entre Doppler y método oscilométrico.

BACKGROUND AND OBJECTIVE: To evaluate the sensitivity and specificity of ankle-brachial index (ABI) determined by oscillometry, using a Doppler ultrasound probe as a gold standard. We also aimed to evaluate the agreement between both methods. PATIENTS AND METHOD: Right and left ABI measurements (ABIr,ABIl) with oscillometric (OMRON-705-CP) and Doppler (DIADOP-50) devices in hypertensive patients without peripheral arterial disease. RESULTS: One hundred patients, 61 women, 66.4 (SD 10.9) year-old, smokers 16%, diabetics 38%. Oscillometric and doppler ABI could be calculated in 83% and 93% of patients, respectively. Oscillometric ABIr and ABIl measurements were <0.9 in 9.6% (CI 95%, 4.2-18.1) and 8.4% (CI 95%, 3.4-16.6), respectively, and Doppler measurements were 10.8% (CI 95%, 5.3-18.9) and 15.4% (CI 95%, 8.7-24.5) respectively. The oscillometric ABIr and ABIl sensitivity was 37.5% (CI 95%, 13.7-69.4) and 20.0% (CI 95%, 5.7-51.0) respectively, and the specificity was 93.0% (CI 95%, 84.6-97.8) and 97.1% (CI 95%, 89.9-99.2), respectively. The intraclass correlation (index Doppler/oscillometric device) was 0.64 (CI 95%, 0.44-0.77) for ABIr and 0.62 (CI 95%, 0.41-0.76) for ABIl. CONCLUSIONS: About 8.4-15.4% of hypertensive patients attended have an abnormal Doppler ABI measurement. There is not a good concordance between Doppler and oscillometric ABI measurements. This oscillometric device does not seem useful as an ABI screening method.

Cirugía laparoscópica por puerto único: ¿moda pasajera o un reto para el futuro? 10 años de experiencia.

La cirugía laparoscópica por puerto único es un concepto que refleja la expansión que están sufriendo las técnicas mínimamente invasivas en los últimos años. Pese a ser un estímulo para todo laparoscopista, su implantación es hoy por hoy una asignatura pendiente en la mayoría de los hospitales. Nuestro objetivo es reflexionar sobre la laparoscopia a través de incisión única a la luz de nuestra casuística. Hemos realizado un estudio descriptivo observacional retrospectivo de pacientes intervenidos en nuestro centro mediante laparoscopia a través de incisión única Desde 2012, se han realizado en nuestro hospital, 215 laparoscopias por puerto único de las cuales 175 son apendicectomías, 37 hemicolectomías derechas, 2 colecistectomías y 1 eventroplastia con buenos resultados clínicos y estéticos. La laparoscopia por incisión única supone un paso más en el perfeccionamiento de la cirugía mínimamente invasiva y debe suponer un reto y un empeño para el cirujano su expansión e implantación. (provisto por Infomedic International)

Single-port laparoscopic surgery is a concept that reflects the expansion of minimally invasive techniques in recent years. Despite being a stimulus for every laparoscopist, its implementation is still a pending subject in most hospitals. Our objective is to reflect on single incision laparoscopy in the light of our casuistry. We have performed a retrospective observational descriptive study of patients operated in our center by single incision laparoscopy. Since 2012, 215 single port laparoscopies have been performed in our hospital of which 175 are appendectomies, 37 right hemicolectomies, 2 cholecystectomies and 1 eventroplasty with good clinical and aesthetic results. Single incision laparoscopy is a further step in the improvement of minimally invasive surgery and should be a challenge and a commitment for the surgeon in its expansion and implementation. (provided by Infomedic International)

Clinical neuroimaging in the preterm infant: Diagnosis and prognosis.

Perinatal care advances emerging over the past twenty years have helped to diminish the mortality and severe neurological morbidity of extremely and very preterm neonates (e.g., cystic Periventricular Leukomalacia [c-PVL] and Germinal Matrix Hemorrhage - Intraventricular Hemorrhage [GMH-IVH grade 3-4/4]; 22 to < 32 weeks of gestational age, GA). However, motor and/or cognitive disabilities associated with mild-to-moderate white and gray matter injury are frequently present in this population (e.g., non-cystic Periventricular Leukomalacia [non-cystic PVL], neuronal-axonal injury and GMH-IVH grade 1-2/4). Brain research studies using magnetic resonance imaging (MRI) report that 50% to 80% of extremely and very preterm neonates have diffuse white matter abnormalities (WMA) which correspond to only the minimum grade of severity. Nevertheless, mild-to-moderate diffuse WMA has also been associated with significant affectations of motor and cognitive activities. Due to increased neonatal survival and the intrinsic characteristics of diffuse WMA, there is a growing need to study the brain of the premature infant using non-invasive neuroimaging techniques sensitive to microscopic and/or diffuse lesions. This emerging need has led the scientific community to try to bridge the gap between concepts or ideas from different methodologies and approaches; for instance, neuropathology, neuroimaging and clinical findings. This is evident from the combination of intense pre-clinical and clinicopathologic research along with neonatal neurology and quantitative neuroimaging research. In the following review, we explore literature relating the most frequently observed neuropathological patterns with the recent neuroimaging findings in preterm newborns and infants with perinatal brain injury. Specifically, we focus our discussions on the use of neuroimaging to aid diagnosis, measure morphometric brain damage, and track long-term neurodevelopmental outcomes.

Longitudinal study of children with perinatal brain damage in whom early neurohabilitation was applied: Preliminary report.

OBJECTIVE: The neurohabilitation treatment has been shown to be a successful method for decreasing the sequelae of perinatal brain damage (PBD) in Hungarian population. The goal of this pilot trial was to introduce this procedure by describing the results of its application in infants with PBD as demonstrated by clinical, developmental and MRI studies. As this procedure has proved to be useful, according the declaration of Helsinki, no control clinical trial was permitted. PARTICIPANTS: Infants younger than 2 months of corrected age (CA) with prenatal and/or perinatal risk factors for brain damage. Two groups were considered. One group was treated using the "neurohabilitation" method (n=20), and the other was not treated (n=13) because treatment was voluntarily discontinued after the initial evaluation. Evaluations were carried out prior to 2 months of CA and at 6-8 years of age. All children showed abnormal clinical and MRI characteristics in the first study. RESULTS: The treated group had a higher percentage (90%) of children with normal outcome than did the non-treated group (38%; OR=2.37, CI 95%=1.2-4.7; p<0.005). In this latter group, only one out of five (20%) children born at or before 34 weeks of gestational age had a normal outcome. In contrast, eight out of nine treated preterm infants had normal outcomes (8/9=89%, OR=4.45, CI 95%=0.7-26; p=0.017). CONCLUSIONS: This pilot trial confirms previous studies suggesting that Neurohabilitation decreases the neurological and cognitive sequelae of preterm and at-term infants with PBD.

Carcinoma de tireóide na infância / Thyroid carcinoma in childhood

Revisa-se literatura sobre a incidência, etiologia, clínica, diagnóstico e o prognóstico do carcinoma de tireóide na infância. Enfatiza-se a necessidade de realizar cuidados investigaçäo em crianças que apresentam adenopatias cervicais ou nódulos na regiäo da glândula tireóide

Repercussäo da antibioticoterapia materna intraparto no diagnóstico de sepse neonatal precoce / The influence of intrapartum antibiotic therapy on the diagnosis of early-onset neonatal sepsis

Objetivo: Determinar a repercussäo do uso de antibióticos pelas mäes no resultado das hemoculturas e culturas de secreçäes dos recém-nascidos com suspeita clínica de infecçäo precoce. Material e Métodos: No período de agosto de 1995 a julho de 1996, foram analisados 69 casos seqüenciais de recém-nascidos com sepse ou síndrome séptica precoce. Os recém-nascidos foram acompanhados para seus desfechos clínicos: crescimento ou näo de germe em suas culturas de secreçöes (sangue, urina, líquor, secreçäo traqueal ou cateter umbilical). O tamanho mínimo de amostra calculado foi 17 para cada grupo, considerando um nível de significância de 5 por cento...

Gestacao extra-uterina rota em associacao com gestacao intra-uterina: relato de caso e revisao / Combined intrauterine and extrauterine gestation: case report and review

A gestacao simultanea intra e extra-uterina e uma situacao rara. O diagnostico deve ser suspeitado principalmente nas pacientes que se submeterem a fertilizacao in vitro ou que usaram drogas indutoras da ovulacao, sendo raro em outras ocasioes. Os autores apresentam um caso de gestacao extra-uterina de 29 semanas rota, tratada por cirurgia e evolucao da gestacao intra-uterina ate 34 semanas, quando, devido a trabalho de parto prematuro, oligodramnia e sofrimento fetal, realizou-se cesariana

Carcinoma misto papilar-folicular de tireoide na infancia: relato de um caso / Mixed pappilary follicular carcinoma of the thyreoide galnd in childhood: report of a case

Os autores relatam um caso de carcinoma de tireoide na infancia visto no servico pediatrico. Eles justificam o relato pela raridade desta patologia na infancia e por apresentar um quadro clinico pouco comum. Os autores revisam a etiologia e o diagnostico desta patologia. Apresentam, ainda, a investigacao clinica, bem como o curso clinico da doenca. Revisam, tambem, a literatura do cancer de tireoide na infancia. Concluem enfatizando a necessidade de uma investigacao cuidadosa nas criancas com achados radiologicos incomuns, sendo o diagnostico de metastase de carcinoma de tireoide uma das possibilidades