Cochlear Implant in Prelingually Deaf Children: Our Experience

Retrospective study of the prelingual cochlear implantation programme under government scheme done at medical college hospital in central India. Forty-two prelingually deaf children screened and sent for cochlear implantation at our centre From March 2015 to Feb 2018 were reviewed with respect to their age, sex, preimplantation hearing aid use, surgical technique for cochlear implantation, type of FDA (USA) approved cochlear implant, post operative speech therapy and its outcome with respect to categories of auditory perception and speech intelligibility scoring were compared for children younger than 4 years and older than 4 years. For outcome measurement non parametric statistical method was used for any significance between the two groups. There was a wide range of children implanted ranging from 2 to 7 years. Both varia and mastoidectomy and posterior tympanotomy method of cochlear implantations were done with good rate complete insertion and electrode activation. There was no significant difference between the two group with regard to CAP and SIR outcomes after 1 year. In order to get better outcomes with respect to the speech language development, there is need to strengthen the early identification and cochlear implantation before 4 years of age in government approved schemes.     

Intracranial and extracranial hemorrhages in newborns with hemophilia: a review of the literature.

PURPOSE: Intracranial hemorrhage (ICH) and extracranial hemorrhage (ECH) in newborns with hemophilia were reviewed with respect to incidence, anatomic location, clinical presentation, and relationship to the mode of delivery and type of hemophilia. MATERIALS AND METHODS: A MEDLINE search from 1964 to 1996 of all reports of neonatal hemophilia and head bleeds in children from birth to 1 month old was performed. ICH was defined as any bleed occurring within the cranial cavity, and ECH was defined as hemorrhage occurring outside of the cranial cavity, including subgaleal and cephalhematoma. The mode of delivery, type and severity of hemophilia, and clinical presentation were also noted. RESULTS: One hundred two newborns with hemophilia and cranial bleeds were described in 33 publications. The cumulative incidence of ICH and ECH was 3.58% in 5 studies that reported the total newborn population or that examined birth records. The type of hemophilia was reported for 40 of 102 newborns and was hemophilia A in 87%. The mode of delivery was recorded in 46% (47 of 102) of the patients. Of these, 13% had cesarean delivery, and 87% were delivered vaginally (40% had spontaneous vaginal delivery, and 47% had vaginal delivery with vacuum extraction or forceps). There were 109 episodes of ICH and ECH (65% were ICH, 35% were ECH, and 5.8% were a combination of both). Common clinical features of ICH and ECH included anemia, hypotension, shock, and lethargy. However, only patients with ICH were reported to have neurologic deficits (15%) and late neurologic sequelae (38%). CONCLUSION: In neonates with hemophilia and cranial bleeds, ICH occurs more often and is often associated with late neurologic deficits.     

Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia

NADH‐cytochrome b5 reductase 3 deficiency is an important genetic cause of recessive congenital methemoglobinemia (RCM) and occurs worldwide in autosomal recessive inheritance. In this Mutation Update, we provide a comprehensive review of all the pathogenic mutations and their molecular pathology in RCM along with the molecular basis of RCM in 21 new patients from the Indian population, including four novel variants: c.103A>C (p.Thr35Pro), c.190C>G (p.Leu64Val), c.310G>T (p.Gly104Cys), and c.352C>T (p.His118Tyr). In this update, over 78 different variants have been described for RCM globally. Molecular modeling of all the variants reported in CYB5R3 justifies association with the varying severity of the disease. The majority of the mutations associated with the severe form with a neurological disorder (RCM Type 2) were associated with the FAD‐binding domain of the protein while the rest were located in another domain of the protein (RCM Type 1).