Early diagnosis of severe sepsis in children in the first year of life

Abstract In a retrospective study we evaluated long-term growth, pubertal developmental patterns to final height (FH), and medication in 55 patients (35 females) affected by 21-hydroxylase deficiency. The patients were classified into 3 groups according to predicted mutation severity: group A (11 women and 9 men), homozygous or compound heterozygous for null or In2 splice mutations [residual enzymatic activity (RA), <1%]; group B (11 women and 4 men), homozygous for I172N or R341P or R426H mutations (RA, ∼2–3%) or compound heterozygous with any of the group A or B mutations; and group C (13 women and 7 men), homozygous for P30L or V281L or P453S mutations (RA, >30%) or compound heterozygous with any of the group A, B, or C mutations. Three patients showed unclassifiable genotypes. FH was similar in the female groups, whereas male patients in group B were shorter than males in groups A and C. Fifty-five percent of patients in group A, 33% in group B, and 40% in group C reached an FH within 0.5 sd of target height. Four of the 7 patients diagnosed via neonatal screening achieved an FH equal to or above the target height. In the entire group, early diagnosis (<1 yr) improved height outcome. Early diagnosed CAH patients who received lower cortisol equivalent doses during the first year of life reached a better FH. Our results underline the importance of mineralocorticoid therapy, as CAH subjects in groups A and B who did not receive this treatment showed reduced FH. Early diagnosis, the use of more physiological cortisol equivalent dosages during the first year of life, and the extension of mineralocorticoid therapy to all classical patients are shown to improve the auxological outcome. Genotypic analysis helped to interpret the height results of our cases and prospectively may represent a useful tool for improving the therapeutic choice and the height outcome.

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PERTUSSIS IN CHILDREN – CLINICAL AND EPIDEMIOLOGICAL CHARACTERISTICS IN THE SAMARA REGION

Journal Infectology ◽

10.22625/2072-6732-2018-10-3-54-60 ◽

2018 ◽

Vol 10 (3) ◽

pp. 54-60 ◽

Cited By ~ 3

Author(s):

E. S. Gasilina ◽

S. M. Kitajchik ◽

I. A. Gorelova ◽

N. P. Kabanova ◽

O. A. Fedoseeva ◽

...

Keyword(s):

Early Diagnosis ◽

Clinical Features ◽

Vaccination Coverage ◽

Clinical Picture ◽

Whooping Cough ◽

First Year ◽

Bacteriological Method ◽

Express Methods ◽

First Year Of Life ◽

Epidemiological Characteristics

Objective:to study the features of the clinical and epidemiological characteristics of whooping cough in children in the Samara region.Materials and methods: 389 cases of pertussis in the Samara region for 2015–2016 were analyzed.Results: it is shown that in spite of 95–98% vaccination coverage, in recent years there has been an increase in the incidence of whooping cough. Seasonality of morbidity remains. Among the children observed, the youngest children were not vaccinated against pertussis. The clinical picture of the disease remains typical with the classic course of catarrhal and spasmodic periods. Moderately severe forms of the disease predominate. Complications were noted mainly in unvaccinated children of the first year of life. The most frequent complications were pneumonia and apnea. There is a hypodiagnosis of pertussis in outpatient conditions. Infection often occurs under the mask of ARVI, while the sensitivity of the bacteriological method of diagnosis is zero. Of the methods for confirming the diagnosis, the most reliable is ELISA and PCR.Conclusion: these epidemiological and clinical features of pertussis current testify to the need to further improve methods of early diagnosis, especially express methods, etiopathagenetic treatment, specific prevention, antiepidemic measures in the foci of infection.

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Experiences of patients with Poland syndrome of diagnosis and care in Italy: a pilot survey

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-019-1253-8 ◽

2019 ◽

Vol 14 (1) ◽

Cited By ~ 3

Author(s):

Ilaria Baldelli ◽

Fabio Gallo ◽

Marco Crimi ◽

Piero Fregatti ◽

Lorenzo Mellini ◽

...

Keyword(s):

Quality Of Life ◽

Early Diagnosis ◽

Diagnostic Delay ◽

Research Network ◽

First Year ◽

Poland Syndrome ◽

Organizational Issues ◽

Perceived Quality Of Care ◽

First Year Of Life

Abstract Background Poland Syndrome (PS) is a rare congenital malformation involving functional and aesthetic impairments. Early diagnosis and timely therapeutic approaches play an important role in improving the quality of life of patients and kindred. This study aims to explore healthcare experiences of the diagnosis of patients affected by PS and to investigate the factors associated with diagnostic delay in Italy. Results Seventy-two patients affected by PS were asked to fill in a self- administered questionnaire on: a) diagnostic path; b) perceived quality of care received after diagnosis; c) knowledge of the rights and the socio-economic hardships related to their disease; d) evaluation of the integration of various professional skills involved in the diagnostic and therapeutic approach; e) perception of the social support provided by the Italian Association of Poland Syndrome (AISP). The average age at diagnosis was around 14 years; diagnosis was made at birth in only 31.58% of cases. Although typical symptomatology had appeared on average at an early age (4 months), only 23 patients (40.35%) received an early diagnosis (within the first year of life). Just over half of the patients (n = 30) were diagnosed in their region of origin, while 27 were diagnosed elsewhere. Furthermore, 12.28% were self-diagnoses. Among the patients who were diagnosed outside their region, 15 (88.24%) stated they had foregone some visits or treatments owing to costs and/or organizational issues. Conclusions An analysis of the patients’ experiences highlights several gaps and a lack of homogeneity in the diagnostic and therapeutic follow-up of PS patients in Italy. A specific national diagnostic and therapeutic path is essential to guarantee patients complete and appropriate health services, compliant with the ethical principles of non-discrimination, justice and empathy. Implementation of an effective information and research network and empowerment of patients’ associations are necessary conditions to encourage clinical collaboration and improve the quality of life of people living with rare diseases.

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Rare Treatable Cause of Demyelinating Leukoencephalopathy That One Cannot Afford to Miss

Journal of Pediatric Genetics ◽

10.1055/s-0040-1721678 ◽

2020 ◽

Author(s):

Vykuntaraju K. Gowda ◽

Sukanya Vignesh ◽

Balamurugan Nagarajan ◽

Varunvenkat M. Srinivasan ◽

Manojna Battina ◽

...

Keyword(s):

Early Diagnosis ◽

Biotinidase Deficiency ◽

Diagnosis And Treatment ◽

Hypoxic Ischemic Encephalopathy ◽

First Year ◽

Diagnostic Challenge ◽

First Year Of Life ◽

Biotin Supplementation ◽

Ischemic Encephalopathy ◽

Unusual Finding

AbstractBiotinidase deficiency is a treatable neurometabolic disorder. It usually presents during the first year of life with seizures, ataxia, hypotonia, vision and hearing disturbance, alopecia, and skin rashes. It can have various neuroimaging findings but demyelinating leukoencephalopathy is an unusual finding in children with biotinidase deficiency that can cause diagnostic challenge as it can radiologically mimic perinatal hypoxic–ischemic encephalopathy or other leukodystrophies. It reverses with early diagnosis and treatment with biotin supplementation and the outcome is rewarding.

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The Development of Swallowing Respiratory Coordination

Perspectives on Swallowing and Swallowing Disorders (Dysphagia) ◽

10.1044/sasd18.1.19 ◽

2009 ◽

Vol 18 (1) ◽

pp. 19-24

Author(s):

Maggie-Lee Huckabee

Keyword(s):

Cortical Activation ◽

First Year ◽

Healthy Children ◽

Nasal Airflow ◽

Single Session ◽

Primary Finding ◽

Patterns Of Behavior ◽

Cortical Modulation ◽

First Year Of Life ◽

Swallowing Apnea

Abstract Research exists that evaluates the mechanics of swallowing respiratory coordination in healthy children and adults as well and individuals with swallowing impairment. The research program summarized in this article represents a systematic examination of swallowing respiratory coordination across the lifespan as a means of behaviorally investigating mechanisms of cortical modulation. Using time-locked recordings of submental surface electromyography, nasal airflow, and thyroid acoustics, three conditions of swallowing were evaluated in 20 adults in a single session and 10 infants in 10 sessions across the first year of life. The three swallowing conditions were selected to represent a continuum of volitional through nonvolitional swallowing control on the basis of a decreasing level of cortical activation. Our primary finding is that, across the lifespan, brainstem control strongly dictates the duration of swallowing apnea and is heavily involved in organizing the integration of swallowing and respiration, even in very early infancy. However, there is evidence that cortical modulation increases across the first 12 months of life to approximate more adult-like patterns of behavior. This modulation influences primarily conditions of volitional swallowing; sleep and naïve swallows appear to not be easily adapted by cortical regulation. Thus, it is attention, not arousal that engages cortical mechanisms.

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