9 research outputs found

    Disability and the need for rehabilitative facilities in the young Albanian population of the Lezha district

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    In order to implement a community-based rehabilitation programme in the rural district of Lezha (Albania), a systematic survey to assess disabilities and related care needs of people under 18 years of age was carried out. The aim of the survey was to evaluate the prevalence rates and severity of disabilities, detected by means of a questionnaire issued by the WHO Community-Based Rehabilitation Programme. The prevalence of disabled people under 18 years of age was 5.86 per 1000 (180 subjects out of the estimated population of 30,712). The most frequent diagnosis was sequelae of infantile cerebral palsy (1.8 per 1000), followed by mental retardation and deafness. The results of the survey stress that the severe non-self sufficiency of these subjects could be improved by means of an appropriate programme to increase their autonomy, including rehabilitation treatment and early school attendance

    16P Subtelomeric Duplication With Vascular Anomalies: An Albanian Case Report And Literature Review

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    A patient with karyotype 46,XY,der(4) was recognized by standard cytogenetic techniques, and presented with facial features, neurological impairment and pulmonary hypertension. Multiplex ligation-dependent probe amplification (MLPA) demonstrated duplication of the subtelomeric region of chromosome 16p and deletion of the subtelomeric region of chromosome 4q, suggesting a translocation between 4q and 16p. The karyotype of his parents was normal and their MLPA analysis also indicated a de novo imbalance. He had microcephaly, high frontal hairline, thin blond hair, bilateral blepharophimosis and palpebral ptosis, short nose, everted upper lip, cleft palate, micrognathia, cupped anteverted ears, hypoplastic distal phalanges and bilateral inguinal hernia. He also had pulmonary hypertension with tricuspidal regurgitation; cavernous liver hemangioma anomalies have been previously described in association with dup16p. We concluded that pulmonary and other vascular anomalies can be a feature of dup16p. We believe this is the first confirmed case of a 16p subtelomeric duplication with vascular anomalies identified in Albania

    Disability and the need for rehabilitative facilities in the young Albanian population of the Lezha district

    No full text
    In order to implement a community-based rehabilitation programme in the rural district of Lezha (Albania), a systematic survey to assess disabilities and related care needs of people under 18 years of age was carried out. The aim of the survey was to evaluate the prevalence rates and severity of disabilities, detected by means of a questionnaire issued by the WHO Community-Based Rehabilitation Programme. The prevalence of disabled people under 18 years of age was 5.86 per 1000 (180 subjects out of the estimated population of 30,712). The most frequent diagnosis was sequelae of infantile cerebral palsy (1.8 per 1000), followed by mental retardation and deafness. The results of the survey stress that the severe non-self sufficiency of these subjects could be improved by means of an appropriate programme to increase their autonomy, including rehabilitation treatment and early school attendance
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