Biochemical Approaches to the Early Diagnosis and Prevention of Genetic Disease

Presented are three clinical observations of patients with a rare, but one of the oldest, genetic disease, which according to modern concepts belongs to the group of autoinflammatory diseases — familial Mediterranean fever. In the cases described, the diagnosis was first made in adulthood. The main purpose of the description of these cases is to draw the attention of practitioners to the possibility of early diagnosis and adequate pathogenetic therapy of this cohort of patients with an ethnic predisposition, but manifested regardless of the place of modern residence.

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Bilateral congenital cholesteatoma of the temporal bone in Crouzon syndrome

Srpski arhiv za celokupno lekarstvo ◽

10.2298/sarh1502068d ◽

2015 ◽

Vol 143 (1-2) ◽

pp. 68-70 ◽

Cited By ~ 2

Author(s):

Dragoslava Djeric ◽

Ljiljana Cvorovic ◽

Srbislav Blazic

Keyword(s):

Early Diagnosis ◽

Temporal Bone ◽

Multidisciplinary Team ◽

Genetic Disease ◽

Autosomal Dominant ◽

Crouzon Syndrome ◽

Maxillary Hypoplasia ◽

Mandibular Prognathism ◽

Congenital Cholesteatoma ◽

Diagnosis And Management

Introduction. Crouzon syndrome is an autosomal dominant genetic disease characterized by bicoronal craniosynostosis, exorbitism with hypertelorism, and maxillary hypoplasia with mandibular prognathism. Case Outline. We present the first reported case of Crouzon syndrome associated with a bilateral congenital cholesteatoma of the temporal bone and discuss about the potential pathogenesis. Conclusion. Early diagnosis and management are crucial to prevent complications and an otologist should be an integral part of the multidisciplinary team.

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Three cases of late diagnosis of periodic illness

South Russian Journal of Therapeutic Practice ◽

10.21886/2712-8156-2021-2-2-94-99 ◽

2021 ◽

Vol 2 (2) ◽

pp. 94-99

Author(s):

L. N. Eliseeva ◽

M. I. Bocharnikova

Keyword(s):

Early Diagnosis ◽

Familial Mediterranean Fever ◽

Genetic Disease ◽

Late Diagnosis ◽

Autoinflammatory Diseases ◽

Clinical Observations ◽

Pathogenetic Therapy ◽

Mediterranean Fever ◽

Made In

Presented are three clinical observations of patients with a rare, but one of the oldest, genetic disease, which according to modern concepts belongs to the group of autoinflammatory diseases — familial Mediterranean fever. In the cases described, the diagnosis was first made in adulthood. The main purpose of the description of these cases is to draw the attention of practitioners to the possibility of early diagnosis and adequate pathogenetic therapy of this cohort of patients with an ethnic predisposition, but manifested regardless of the place of modern residence.

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Bilateral Retinoblastoma Presenting in an in vitro Fertilization Infant with Retinopathy of Prematurity

Case Reports in Ophthalmology ◽

10.1159/000513181 ◽

2021 ◽

pp. 306-310

Author(s):

Ruba Saleh Alghofaili ◽

Saleh A. Almesfer

Keyword(s):

In Vitro Fertilization ◽

Early Diagnosis ◽

Retinopathy Of Prematurity ◽

Genetic Disease ◽

Advanced Stage ◽

Vitro Fertilization ◽

Premature Babies ◽

Bilateral Retinoblastoma

Retinopathy of prematurity (ROP) and retinoblastoma (RB) are well-described entities in premature babies. Although their pathogeneses are different, with ROP representing a disorder of interrupted development and RB a genetic disease, a few co-occurring cases have been reported, raising the possibility that the 2 conditions. Here, we report the sixth such case of co-occurring ROP and RB in an 8-month-old infant conceived by in vitro fertilization (IVF) who developed bilateral retinoblastoma a few months after treatment for advanced-stage ROP. While the ROP was initially adequately managed, bilateral RB necessitated bilateral enucleation. This case raises a number of important questions about whether IVF, ROP, and RB are causally related. Although the associations between IVF, ROP, and RB are likely to be coincidental, this case nevertheless highlights that ROP patients require regular follow-up for early diagnosis and treatment of ocular sequelae including RB.

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Red Flags: Barriers to Listening and Spoken Language in Children with Hearing Loss

Perspectives on Hearing and Hearing Disorders in Childhood ◽

10.1044/hhdc24.1.11 ◽

2014 ◽

Vol 24 (1) ◽

pp. 11-18

Author(s):

Andrea Bell ◽

K. Todd Houston

Keyword(s):

Hearing Loss ◽

Early Diagnosis ◽

Skill Acquisition ◽

Dynamic Process ◽

Spoken Language ◽

Red Flags ◽

Careful Monitoring ◽

Auditory Development ◽

Children With Hearing Loss ◽

Family Centered

To ensure optimal auditory development for the acquisition of spoken language, children with hearing loss require early diagnosis, effective ongoing audiological management, well fit and maintained hearing technology, and appropriate family-centered early intervention. When these elements are in place, children with hearing loss can achieve developmental and communicative outcomes that are comparable to their hearing peers. However, for these outcomes to occur, clinicians—early interventionists, speech-language pathologists, and pediatric audiologists—must participate in a dynamic process that requires careful monitoring of countless variables that could impact the child's skill acquisition. This paper addresses some of these variables or “red flags,” which often are indicators of both minor and major issues that clinicians may encounter when delivering services to young children with hearing loss and their families.

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