Abstract The state of Uttarakhand in India lies in a highly seismically active zone, therefore earthquake resistant design criteria have been followed for major construction practice in this region. One of the major inputs for earthquake-resistant design is average shear wave velocity (V S ) at 30 m depth. In the present work, at twenty-six different sites, the Horizontal to vertical spectral ratio (HVSR) technique and multichannel analysis of surface wave (MASW) is used for joint analysis to obtain a one-dimensional velocity model that supports both the HV spectrum and dispersion curve obtained from HVSR and MASW methods, respectively. Shear wave profiles obtained at various sites are compared with the bore log data obtained from drilling and it clearly shows that the (V S ) for the same formation have a strong dependence on the depth at which it occurred. Data from twenty-four shear wave profiles have been used to prepare a linear regression relation of (V S ) for different lithological formations with respect to their depth of occurrence. Root mean square error obtained from the developed relationship for various lithologies clearly shows that the results are fairly well within the range of acceptance. The developed relations have been further validated by calculating Vs profile from bore log data obtained at two new location sites that are not included in the data set used for the preparation of regression relations. A comparison of two velocity sections clearly shows that the velocity profile computed from regression relation matches closely with that obtained from the seismic survey and thereby establishing the efficacy of developed regression relationship for its practical implementation. This developed relation allows soil type classification for zoning purposes.

Resumen El estado de Uttarakhand en la India se encuentra en una zona de alta actividad sísmica, por lo que se han seguido criterios de diseño resistentes a los terremotos para las principales prácticas de construcción en esta región. Una de las principales entradas para el diseño resistente a los terremotos es la velocidad media de la onda de corte (V S ) a 30 m de profundidad. En el presente trabajo, en veintiséis sitios diferentes, la técnica de la relación espectral horizontal a vertical (HVSR) y el análisis multicanal de onda de superficie (MASW) se utiliza para el análisis conjunto para obtener un modelo de velocidad unidimensional que soporta tanto la curva de espectro de HV como la curva de dispersión obtenida de los métodos HVSR y MASW, respectivamente. Los perfiles de onda de corte obtenidos en varios sitios se comparan con los datos de registro de perforación obtenidos de la perforación y muestra claramente que los Vs para la misma formación tienen una fuerte dependencia de la profundidad en la que ocurrió. Se han utilizado datos de veinticuatro perfiles de onda de corte para preparar una relación de regresión lineal de Vs para diferentes formaciones litológicas con respecto a su profundidad de ocurrencia. El error cuadrático medio obtenido a partir de la relación desarrollada para varias litologías muestra claramente que los resultados están bastante bien dentro del rango de aceptación. Las relaciones desarrolladas han sido validadas adicionalmente por el cálculo de perfil Vs de los datos de registro de perforación obtenidos en dos nuevos sitios de ubicación que no están incluidos en el conjunto de datos utilizado para la preparación de relaciones de regresión. Una comparación de dos secciones de velocidad muestra claramente que el perfil de velocidad calculado a partir de la relación de regresión coincide estrechamente con el obtenido de la encuesta sísmica y por lo tanto se establece la eficacia de la relación de regresión desarrollada para su implementación práctica. Esta relación desarrollada permite la clasificación del tipo de suelo para fines de zonificación.

Resumo Dois irmãos apresentaram características clínicas e bioquímicas do raquitismo, com suspeita clínica inicial de raquitismo hipofosfatêmico. Não houve melhora no início, portanto os irmãos foram reavaliados e, posteriormente, diagnosticados com raquitismo dependente de vitamina D (VDDR) tipo 1 devido a uma rara mutação no gene CYP27B1, que codifica a enzima 1a-hidroxilase. Ambos os irmãos melhoraram com a suplementação de calcitriol. A apresentação inicial do VDDR geralmente é confusa e a avaliação algorítmica ajuda no diagnóstico. Também apresentamos uma breve revisão da literatura, incluindo genética.

Abstract Two siblings presented with clinical and biochemical features of rickets, initially suspected as hypophosphatemic rickets. There was no improvement initially, hence the siblings were reinvestigated and later diagnosed as having vitamin D-dependent rickets (VDDR) type 1 due to a rare mutation in the CYP27B1 gene encoding the 1α-hydroxylase enzyme. Both siblings improved with calcitriol supplementation. The initial presentation of VDDR is often confusing and algorithmic evaluation helps in diagnosis. We also present a brief review of the literature, including genetics.

Abstract Limited research has investigated the challenges faced by families caring for children with neuronal ceroid lipofuscinosis type 2 (CLN2) disease. Face-to-face, mixed-method, in-depth surveys were conducted with 19 families (23 children) in the UK (n=9) and Germany (n=10) to assess the impact of caring for children with CLN2 disease, using national wellbeing and quality of life (QoL) measures. Primary (n=19) and secondary (n=10) caregivers, adult siblings (n=2), and child siblings (n=2) were included. Caregivers reported reduced health-related QoL compared with age and gender-matched controls (mean utility scores 0.08 and 0.11 lower in Germany and the UK, respectively). Hours of caregiving were significantly higher relative to that provided to a child of normal health, with stress, back pain, and reductions in sleep being recorded. Lower life satisfaction and happiness with partners were also reported, along with significant financial burden. Those caring for children in the late stage of disease were more greatly impacted than those with children in the rapidly progressive stage, or who were bereaved. The results of this study make clear the importance of emotional and practical support for caregivers and siblings coping with CLN2 disease.

Abstract This cross-sectional analysis assessed the correlation between patient-reported outcomes (PROs) and clinical outcomes in 24 German patients with Morquio A. Clinical outcomes included 6-minute walk test (6MWT), 3-minute stair climb (3MSC) test, and joint range of motion as measures for endurance/mobility, forced vital capacity (FVC) and maximum voluntary ventilation (MVV) as measures for respiratory function, and height as an important manifestation. The PROs included the EuroQoL (EQ) 5D-5L (EQ5D-5L), to measure health-related QoL (HRQoL), and patients’ rating of their ability to walk, climb, or breathe. In adults, endurance and pulmonary function measures and height showed strong and statistically significant correlation with the patients’ EQ5D-5L (6MWT: R = .884, 3MSC test: R = .852, FVC: R = .815, MVV: R = .825, height: R = .842). The adult patients’ rating of their ability to walk and climb also correlated strongly with 6MWT (R = .839) and 3MSC test (R = .700) results. Improvements in these clinical outcomes may be robust surrogate parameters of a better EQ5D-5L/HRQoL in patients with Morquio A.

Abstract This international survey performed by direct personal interview or mail evaluated the global burden among primary caregivers of patients with Morquio A syndrome. Collected outcomes included self-reported time spent on caregiving, proportion of daily activities (from the Mucopolysaccharidosis Health Assessment Questionnaire) requiring caregiver assistance, and how the patient’s age and wheelchair use affect these. In addition, the impact of caregiving on the caregivers’ relationship with family and friends, physical and mental health, and employment status and income was evaluated. Caregiver burden increased with disease progression. Adult patients always using a wheelchair required substantially more caregiving time and complete assistance with a larger proportion of daily activities than more mobile patients. In children, this was less apparent. Caregivers suffered physically and emotionally and their family and social life and financial situation were considerably impacted. Improvements in patient mobility may substantially reduce the level of caregiver support and the burden of caregiving.