Using assessment of higher brain functions of children with GJB2-associated deafness and cochlear implants as a procedure to evaluate language development

Objective: While investigators have reported that patients with GJB2-associated deafness and cochlear implants have preferable language development, the mechanisms of this phenomenon remains unknown. The goat of the present study was to assess higher brain functions of patients with GJB2-retated and GJB2-unrelated deafness as a method of evaluating language development. Methods: Eight children with cochlear implants were subjected to genetic testing for GJB2 and underwent the Raven colored progressive matrices test, Rey's auditory verbal learning test, Rey's complex figure test, the standardized Language test for aphasia, the picture vocabulary test, and the standardized comprehension test for abstract words. Results:Three children were diagnosed with GJB2-related deafness, and five children were diagnosed with GJB2-unrelated deafness. All three GJB2-related cases demonstrated normal range higher brain functions and fair language development. By contrast, one GJB2-unrelated case showed a semantic disorder, another demonstrated a visual cognitive disorder with dyslexia, and another had attention deficit-hyperactivity disorder. Conclusions:Children with GJB2-unrelated deafness showed a high frequency of heterogeneous disorders that can affect proper language development. This difference between children with GJB2-retated and GJB2-unrelated deafness may account for the improved language development in children with GJB2-related deafness and cochlear implants. Further, genetic diagnosis of the non-syndromic hearing toss represents a useful tool for the preoperative prediction of outcomes following a cochlear implant procedure.</p

Multi-system neurological disease is common in patients with OPA1 mutations

Additional neurological features have recently been described in seven families transmitting pathogenic mutations in OPA1, the most common cause of autosomal dominant optic atrophy. However, the frequency of these syndromal ‘dominant optic atrophy plus’ variants and the extent of neurological involvement have not been established. In this large multi-centre study of 104 patients from 45 independent families, including 60 new cases, we show that extra-ocular neurological complications are common in OPA1 disease, and affect up to 20% of all mutational carriers. Bilateral sensorineural deafness beginning in late childhood and early adulthood was a prominent manifestation, followed by a combination of ataxia, myopathy, peripheral neuropathy and progressive external ophthalmoplegia from the third decade of life onwards. We also identified novel clinical presentations with spastic paraparesis mimicking hereditary spastic paraplegia, and a multiple sclerosis-like illness. In contrast to initial reports, multi-system neurological disease was associated with all mutational subtypes, although there was an increased risk with missense mutations [odds ratio = 3.06, 95% confidence interval = 1.44–6.49; P = 0.0027], and mutations located within the guanosine triphosphate-ase region (odds ratio = 2.29, 95% confidence interval = 1.08–4.82; P = 0.0271). Histochemical and molecular characterization of skeletal muscle biopsies revealed the presence of cytochrome c oxidase-deficient fibres and multiple mitochondrial DNA deletions in the majority of patients harbouring OPA1 mutations, even in those with isolated optic nerve involvement. However, the cytochrome c oxidase-deficient load was over four times higher in the dominant optic atrophy + group compared to the pure optic neuropathy group, implicating a causal role for these secondary mitochondrial DNA defects in disease pathophysiology. Individuals with dominant optic atrophy plus phenotypes also had significantly worse visual outcomes, and careful surveillance is therefore mandatory to optimize the detection and management of neurological disability in a group of patients who already have significant visual impairment

PROLAPSE OF THE UMBILICAL CORD : AN EPIDEMIOLOGICAL CLINICAL SURVEY OF 264 CONSECUTIVE CASES AND EXPERIMENTAL DEMONSTRATION OF VASCULAR SPASM AS A MECHANISM OF FOETAL DEATH

Ph.DDOCTOR OF MEDICIN

Nasopharyngeal (Tornwaldt’s) Cyst: Rare Finding in a Habitual Snorer

A nasopharyngeal (tornwaldt’s) cyst is uncommon. It is often asymptomotic; however it may cause problem if it too big becomes. We present a case of a 24-year-old Malay girl who had been a habitual snorer for years but was unaware of the significance of her problem. opportunities for an earlier referral and assessment were missed since we were not aware of her history despite previous related but non-specific consultations at our primary healthcare centre. she was referred to us a few years later when her nasopharyngeal cyst became infected. After a course of antibiotics, she proceeded with an endoscopic resection of the nasopharyngeal cyst. A follow-up visit six months later did not reveal a recurrence. this case highlights the importance of a good history for the diagnosis of a nasopharyngeal cyst

Report on maternal health and early pregnancy wastage in peninsular Malaysia

IDRC supported. Survey of maternal child health and early pregnancy wastage due to spontaneous and induced abortion in Peninsular Malaysia - sets out health risk due to pregnancy wastage, contraceptive usage and its relation to induced abortion and family planning, considering demographic and social aspects, religion and education; describes methodology of data collecting, data analysis and presentation. Statistical data