scholarly journals Pediatric Dental Care in Fanconi Anemia: A Case Report

2018 ◽  
Vol 20 (3) ◽  
pp. 25-31
Author(s):  
César Gaitán-Fonseca DDS, MSc, PhD ◽  
Maribel Frías-Muñoz DDS ◽  
Luis Enrique Guerrero-de la Torre DDS ◽  
Obed Lemus-Rojero DDS, MSc ◽  
Luis Alejandro Aguilera-Galavíz DDS, MSc, PhD
Keyword(s):  
Fanconi Anemia ◽  
Genetic Disease ◽  
Congenital Malformations ◽  
Autosomal Recessive ◽  
Epidemiological Data ◽  
Positive Influence ◽  
Chromosome X ◽  
Systemic Condition

Fanconi Anemia (FA) is an autosomal-recessive genetic disease that is linked to Chromosome X, which is reported in studies with pancytopenia, congenital malformations, and a predisposition to develop cancer. FA 1,360,000 births, and is a condition that occurs in heterozygous subjects in 0.5% of the population. In Mexico, there are, to our knowledge, no epidemiological data on FA, and it is thought that many cases are underdiagnosed. This document reports the clinical case of a patient diagnosed with FA who   the cardinal signs of this rare pathology. The pediatric approach involved was performed with a preventive and restorative approach, in addition to the design and placement of a palatal shutter. After a follow-up of more than 12 months, a significant reduction in the recurrence of infections, such as otitis, tonsillitis, and pharyngitis, was observed, suggesting a positive influence of the use of the obturator. In turn with the latter, there was a lower need for transfusions, which may also be related to control of the foci of the infection. The pediatric approach employed in to patients with FA may have significant repercussions on both quality of life and on their patients’ general systemic condition, although this is scarcely verifiable due to the rarity of this pathology.

scholarly journals Netherton’s Syndrome: A Case of Two Male Siblings Diagnosed in Adulthood

2020 ◽  
Vol 12 (1) ◽  
pp. 64-69
Author(s):  
Akshay Flora ◽  
Annika Smith
Keyword(s):  
Genetic Disease ◽  
Sanger Sequencing ◽  
Autosomal Recessive ◽  
Correct Diagnosis ◽  
Hair Shaft ◽  
Cutaneous Inflammation ◽  
Erythrodermic Psoriasis ◽  
Timely Fashion ◽  
Congenital Ichthyosiform Erythroderma

Netherton’s syndrome (NS) is a rare autosomal recessive genetic disease caused by a germline mutation in the SPINK5 gene. It is most commonly diagnosed in neonates due to the presence of congenital ichthyosiform erythroderma. Affected individuals will typically also develop a hair shaft abnormality known as trichorrhexis invaginata, severe atopy, and a migratory rash known as ichythyosis linearis circumflexa. The chronicity and severity of NS adversely affects a patient’s quality of life to a large extent. It Is therefore important that this condition is identified early, and treatment to reduce cutaneous inflammation is initiated in a timely fashion. However, due to this condition being relatively rare, a lack of awareness may lead clinicians to misdiagnose it as atopic dermatitis or undifferentiated psoriasis. Clinicians should therefore be aware of the peripheral stigmata that this disease may present as in adulthood, so that a correct diagnosis can be made if it was previously missed. Here we present a case of two male siblings from Jordon who were misdiagnosed since childhood as having erythrodermic psoriasis. Clinical examination of one of the siblings, as an adult, revealed multiple peripheral features associated with NS. Genetic analysis through sanger sequencing was also able to identify a mutation in the SPINK5 gene, confirming the diagnosis.

scholarly journals Manejo estomatológico de Anemia de Fanconi en Odontología Pediátrica. Reporte de caso.

2018 ◽  
Vol 14 (2) ◽  
Author(s):  
M.A. Rosales
Keyword(s):  
Aplastic Anemia ◽  
Fanconi Anemia ◽  
Congenital Malformations ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Pediatric Dentistry

Resumen (español):La anemia de Fanconi (FA) es una enfermedad autosómica recesiva que se caracteriza por presentar anemia aplásica, además de malformaciones congénitas renales, cardíacas, esqueléticas, dermatológicas, y aumento en la incidencia de neoplasias malignas. Los pacientes con FA son más susceptibles de presentar sangrado e infecciones, síntomas relacionados con trombocitopenia y neutropenia. El propósito del presente reporte es describir el manejo estomatológico proporcionado a un niño de 9 años y 9 meses de edad con diagnóstico de Anemia de Fanconi, en la Clínica del Posgrado en Estomatología Pediátrica. [ABSTRACT FROM AUTHOR] Abstract Fanconi Anemia (FA) is an autosomal recessive disorder, characterized by aplastic anemia, congenital malformations in kidney, heart, skeletal and skin structures, and with increased incidence to malignancies. FA patients are likely to have bleeding and infections, which are associated with thrombocytopenia and neutropenia symptoms. The purpose of this paper is to report the stomatological management delivered to a child of 9 years and 9 months of age, diagnosed with Fanconi Anemia, in the clinic of Pediatric Dentistry. [ABSTRACT FROM AUTHOR]

scholarly journals A Case of Hyperimmunoglobulinemia D Syndrome Successfully Treated with Canakinumab

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Elena Tsitsami ◽  
Charis Papadopoulou ◽  
Matthaios Speletas
Keyword(s):  
Autosomal Recessive ◽  
Mutational Analysis ◽  
First Year ◽  
Kinase Gene ◽  
Inflammatory Drugs ◽  
First Year Of Life ◽  
Length Analysis ◽  
Mevalonate Kinase Gene

Hyperimmunoglobulinemia D syndrome is a rare autosomal recessive autoinflammatory disorder caused by mutations in the mevalonate kinase gene (MVK). In a proportion of patients, however, noMVKmutations are detected. Although various standard anti-inflammatory drugs have been tried, until now there is no consensus about how HIDS should be treated. We present a case of HIDS in an 8-year-old girl whose clinical picture had started before the end of the first year of life. The patient had consistently elevated IgD levels but no mutations were found after a full-length analysis of theMVKgene. The method ofMVKmutational analysis is presented in details. Treatment with canakinumab in a final single dose of 4 mg/kg every 4 weeks resulted in the disappearance of febrile attacks and a considerable improvement of patients’ quality of life during a 12-month follow-up period. The drug has been well tolerated, and no side effects were observed.

scholarly journals Genetically proven fanconi anemia: a case report

2016 ◽  
Vol 4 (1) ◽  
pp. 290
Author(s):  
Rugmini Kamalammal ◽  
Divya Narayanan Kutty
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Fanconi Anemia ◽  
Congenital Malformations ◽  
Rare Case ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Female Child ◽  
Clinical Findings ◽  
Genetic Studies

Fanconi anemia (FA) is a rare autosomal recessive disorder characterized by congenital malformations, haematological problems and predisposition to malignancies. It was first described by Guido Fanconi, a Swiss Paediatrician in 1927. The prevalence of FA is 1 to 5 cases per million.The genes that have been found to be mutated in FA patients are called FANC. 16 different FANC genes have been reported, among which 60-65% account for the mutations seen in FANCA genes which is the most frequently seen in FA patients. The disease is most commonly seen in children between 5-15 years. Diagnosis is based on the congenital physical abnormalities and confirmed by genetic testing. Here we report a rare case of Fanconi Anemia in a 4 year old female child with the characteristic clinical findings and the diagnosis was confirmed by genetic studies.  

scholarly journals CASE REPORT WAARDENBURG SYNDROME TYPE I WITH IRIS AND RETINAL COLOBOMA

2020 ◽  
Vol 4 (1) ◽  
pp. 8
Author(s):  
Atina Yustisia Lestari ◽  
Reni Prastyani
Keyword(s):  
Case Report ◽  
Global Developmental Delay ◽  
Type I ◽  
Syndrome Type ◽  
Rare Case Report ◽  
Work Up ◽  
Systemic Condition ◽  
Improve Patient

We present a rare case report, Waardenberg syndrome type I, and ocular abnormalities related to the disease. A Boy, 11 months, presented with blue and hole in inferior iris. Patien also controlled to pediatric and ENT departement according his global developmental delayed, and unresponsiveness to sound stimulus since birth. Patient presented with distophia cantrorum, bilateral iris coloboma, brilliant blue iris, and retinal coloboma. Others systemic condition were skin hypopigmentation, bilateral sensorineural hearing lost, and global developmental delay equal to 6 months old baby. According to manifestations, this supporting diagnosis for Waardenberg syndrome type I. The management consists in treating the symptoms accordingly.  Careful follow up and work up is important to improve patient quality of life 

scholarly journals Understanding the relevance of pain, depression and anxiety-like manifestations in the management of cystic fibrosis

2015 ◽  
Vol 67 (3) ◽  
pp. 1067-1070
Author(s):  
Evelina Moraru ◽  
Ramona Diaconu ◽  
Emil Anton ◽  
Laura Bozomitu ◽  
Carmen Anton ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Risk Factors ◽  
Cystic Fibrosis ◽  
Genetic Disease ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Original Data ◽  
Epidemiological Studies ◽  
Depression And Anxiety

Cystic fibrosis (CF) is the most frequent autosomal recessive genetic disease in Caucasians. Although epidemiological studies continue to provide data and information that could lead to a better understanding of the clinical manifestations of the disease, there are still many controversies regarding the importance of some risk factors, such as pain, depression or anxiety in the pathogenesis of this disorder and its management. In the present study, we focused on the relevance of these 3 factors in the management of CF and to their related mechanisms in this disorder. Our original data showed that pain, depression and anxiety, determined by using a specific quality of life (KINDL) questionnaire, are important in understanding this disorder, the effectiveness of treatment and could also represent important factors for improving treatment. The screening and treatment of these specific manifestations in CF patients is recommended and holds promise for improving the outcome of patients with CF.

Cathartic Effect of Suicide Attempts Not Limited to Depression

Crisis ◽  
2003 ◽  
Vol 24 (2) ◽  
pp. 73-78 ◽  
Author(s):  
Yves Sarfati ◽  
Blandine Bouchaud ◽  
Marie-Christine Hardy-Baylé
Keyword(s):  
Quality Of Life ◽  
Depressive Symptoms ◽  
Personality Traits ◽  
Rating Scales ◽  
Suicide Attempts ◽  
World Health ◽  
Life Questionnaire ◽  
Short Term

Summary: The cathartic effect of suicide is traditionally defined as the existence of a rapid, significant, and spontaneous decrease in the depressive symptoms of suicide attempters after the act. This study was designed to investigate short-term variations, following a suicide attempt by self-poisoning, of a number of other variables identified as suicidal risk factors: hopelessness, impulsivity, personality traits, and quality of life. Patients hospitalized less than 24 hours after a deliberate (moderate) overdose were presented with the Montgomery-Asberg Depression and Impulsivity Rating Scales, Hopelessness scale, MMPI and World Health Organization's Quality of Life questionnaire (abbreviated versions). They were also asked to complete the same scales and questionnaires 8 days after discharge. The study involved 39 patients, the average interval between initial and follow-up assessment being 13.5 days. All the scores improved significantly, with the exception of quality of life and three out of the eight personality traits. This finding emphasizes the fact that improvement is not limited to depressive symptoms and enables us to identify the relative importance of each studied variable as a risk factor for attempted suicide. The limitations of the study are discussed as well as in particular the nongeneralizability of the sample and setting.

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