scholarly journals Perinatal hypophosphatasia

2020 ◽  
Vol 16 (3) ◽  
pp. 306-311
Author(s):  
Katarzyna Koszałka-Fornal ◽  
◽  
Dorota Paluszyńska ◽  
Barbara Królak-Olejnik ◽  
◽  
...  
Keyword(s):  
Alkaline Phosphatase ◽  
Neonatal Intensive Care ◽  
Clinical Symptoms ◽  
Therapeutic Process ◽  
Clinical Expression ◽  
Clinical Forms ◽  
Abnormal Structure ◽  
Costs Of Treatment ◽  
The University ◽  
Congenital Metabolic Disorder

Hypophosphatasia, also known as alkaline phosphatase deficiency, is a rare congenital metabolic disorder characterised by early bone and dental defects. First reports on hypophosphatasia date back to 1950s. The prevalence of the disorder in Europe is 1:300,000 births; data on the prevalence in Poland is missing. An abnormal structure of the region coding for the ALPL gene, which is responsible for producing tissue-nonspecific alkaline phosphatase, is the main cause of clinical symptoms. Consequently, there is a significant deficiency in the activity or even absence of this enzyme. Due to the heterogeneous clinical expression of hypophosphatasia, multiple clinical forms of the disorder, which vary in their mode of inheritance and prognosis, have been described, including rare and sporadically reported perinatal forms. There are ongoing studies on the aetiology, diagnosis and treatment of different clinical forms of hypophosphatasia. We present a case report of perinatal hypophosphatasia diagnosed in the Department of Neonatology at the University Clinical Hospital in Wroclaw, with particular focus on the implemented diagnostic-therapeutic process and possible complications in the affected child during the stay in the neonatal intensive care unit. We also performed a literature review to present a wider picture of the disorder belonging to the group of the so-called rare diseases. We described current diagnostic and treatment possibilities in hypophosphatasia, based on the latest clinical trials, as well as the costs of treatment using Strensiq, the only alkaline phosphatase analogue available on the market.

The Prevalence of Rotavirus and Adenovirus in Children 0-5 years old Suffering from Acute Diarrhea in the University Hospital Center of Mother and Child (UHC-MC) in N’Djamena, Chad

2021 ◽  
Vol 2 (6) ◽  
Author(s):  
Fombotioh Ndifor ◽  
Abakar Idriss Lawane ◽  
Nadjioroum Ngam-Asra ◽  
Mouktar Abaya Adoum ◽  
Brahim Boy Otchom ◽  
...  
Keyword(s):  
Viral Infection ◽  
Acute Diarrhea ◽  
Clinical Symptoms ◽  
Public Health Problem ◽  
University Hospital ◽  
Test Kit ◽  
Mother And Child ◽  
Fresh Stool ◽  
The University ◽  
Hospital Center

Acute diarrhea is one of the leading causes of morbidity and mortality in children from 0-5 months old, especially in Africa and many developing countries. Rotavirus and Adenovirus have been recognized as the common pathogens for this public health problem. However, little or no investigation has been carried out on the two viruses in Chad. In view of this fact, we decided to study the prevalence of Rotavirus and Adenovirus in children suffering from acute diarrhea at the University Hospital Center of Mother and Child (UHC-MC). Fresh stool samples were collected from 440 children ages 0-5 years (225 females and 2015 males). They were brought for medical consultation from March 2019- September 2019 at the pediatric department. Specimens were analyzed and Rotavirus and Adenovirus were detected using Rapid Immunochromatographic Test kit (Vikia BioMerieux, France). Out of the 440 children examined, 228 had viral infection with a prevalence of 51.81%. Based on gender infection, females 140 (62.22%) were significantly more infected than males 88(40.93%). Prevalence of mono infection of Rotavirus in children 110 (48.24%) was higher than that of Adenovirus 74(32.45%). More males had Rotavirus infection 60(68.18%) than girls 50 (37.71%). Co-infection was found to be 44 (19.29%). Distribution of viral infection indicated that children between 6-11 months had the highest viral burden 101(77.69%). Among clinical symptoms recorded, dehydration was the highest in children 84(61.76%). Due to the high prevalence of Rotavirus and Adenovirus discovered, we suggest that vaccines for the two viruses should be included in the national immunization program.

Central Apnea of Prematurity: Does Sex Matter?

2020 ◽  
Author(s):  
V. Peter Nagraj ◽  
Douglas E. Lake ◽  
Louise Kuhn ◽  
J. Randall Moorman ◽  
Karen D. Fairchild
Keyword(s):  
Sex Difference ◽  
Neonatal Intensive Care ◽  
University Of Virginia ◽  
Automated Algorithm ◽  
Key Points ◽  
Postmenstrual Age ◽  
Bedside Monitor ◽  
Central Apneas ◽  
Apnea Of Prematurity ◽  
The University

Objective Apnea is common among infants in the neonatal intensive care unit (NICU). Our group previously developed an automated algorithm to quantitate central apneas with associated bradycardia and desaturation (ABDs). Sex differences in lung disease are well described in preterm infants, but the influence of sex on apnea has not been established. Study Design This study includes infants < 34 weeks' gestation admitted to the University of Virginia NICU from 2009 to 2014 with at least 1 day of bedside monitor data available when not on mechanical ventilation. Waveform and vital sign data were analyzed using a validated algorithm to detect ABD events of low variance in chest impedance signal lasting at least 10 seconds with associated drop in heart rate to < 100 beats/minute and drop in oxygen saturation to < 80%. Male and female infants were compared for prevalence of at least one ABD event during the NICU stay, treatment with caffeine, occurrence of ABDs at each week of postmenstrual age, and number of events per day. Results Of 926 infants studied (median gestational age 30 weeks, 53% male), median days of data analyzed were 19 and 22 for males and females, respectively. There was no sex difference in prevalence of at least one ABD event during the NICU stay (males 62%, females 64%, p = 0.47) or in the percentage of infants treated with caffeine (males 64%, females 67%, p = 0.40). Cumulative prevalence of ABDs from postmenstrual ages 24 to 36 weeks was comparable between sexes. Males had 18% more ABDs per day of data, but this difference was not statistically significant (p = 0.16). Conclusion In this large cohort of infants < 34 weeks' gestation, we did not detect a sex difference in prevalence of central ABD events. There was a nonsignificant trend toward a greater number of ABDs per day in male infants. Key Points

scholarly journals Tissue-Nonspecific Alkaline Phosphatase—A Gatekeeper of Physiological Conditions in Health and a Modulator of Biological Environments in Disease

Biomolecules ◽  
2020 ◽  
Vol 10 (12) ◽  
pp. 1648
Author(s):  
Daniel Liedtke ◽  
Christine Hofmann ◽  
Franz Jakob ◽  
Eva Klopocki ◽  
Stephanie Graser
Keyword(s):  
Alkaline Phosphatase ◽  
Clinical Symptoms ◽  
Current Knowledge ◽  
Systemic Disease ◽  
Loss Of Function ◽  
Inorganic Pyrophosphate ◽  
Wide Range ◽  
Mineralization Processes ◽  
Tissue Nonspecific Alkaline Phosphatase

Tissue-nonspecific alkaline phosphatase (TNAP) is a ubiquitously expressed enzyme that is best known for its role during mineralization processes in bones and skeleton. The enzyme metabolizes phosphate compounds like inorganic pyrophosphate and pyridoxal-5′-phosphate to provide, among others, inorganic phosphate for the mineralization and transportable vitamin B6 molecules. Patients with inherited loss of function mutations in the ALPL gene and consequently altered TNAP activity are suffering from the rare metabolic disease hypophosphatasia (HPP). This systemic disease is mainly characterized by impaired bone and dental mineralization but may also be accompanied by neurological symptoms, like anxiety disorders, seizures, and depression. HPP characteristically affects all ages and shows a wide range of clinical symptoms and disease severity, which results in the classification into different clinical subtypes. This review describes the molecular function of TNAP during the mineralization of bones and teeth, further discusses the current knowledge on the enzyme’s role in the nervous system and in sensory perception. An additional focus is set on the molecular role of TNAP in health and on functional observations reported in common laboratory vertebrate disease models, like rodents and zebrafish.

Transition to an Individual-Room NICU Design: Process and Outcome Measures

2008 ◽  
Vol 27 (5) ◽  
pp. 299-305 ◽  
Author(s):  
Cheryl Milford ◽  
Barbara Zapalo ◽  
Glenda Davis
Keyword(s):  
Design Process ◽  
Neonatal Intensive Care ◽  
Best Practice ◽  
Medical Center ◽  
Outcome Data ◽  
University Of Pittsburgh ◽  
Developmentally Supportive Care ◽  
Guidelines And Recommendations ◽  
Design And Practice ◽  
The University

Redesign of a neonatal intensive care unit is a major budget undertaking, demanding accountability for its equipment and feasibility of design. It must be philosophically based and driven by research supporting best practice. The NICU at the Magee-Womens Hospital of the University of Pittsburgh Medical Center, a Level III, 74-bed unit, has made the change from a ward design to an individual-room design suitable for family-centered, developmentally supportive care. This article presents the design process as it occurred. Unique to this process are the involvement of NICU-graduate families and the use of transition teams. Guidelines and recommendations are offered to others interested in designing and practicing in an individual-room NICU. Outcome data demonstrate staff adjustment to the new design and practice model. A comparison of this NICU design is made with the Recommended Standards for Newborn ICU Design.

scholarly journals Tuberculosis in children and adults

2005 ◽  
Vol 202 (12) ◽  
pp. 1617-1621 ◽  
Author(s):  
Alexandre Alcaïs ◽  
Claire Fieschi ◽  
Laurent Abel ◽  
Jean-Laurent Casanova
Keyword(s):  
Pulmonary Disease ◽  
Genetic Background ◽  
The Other ◽  
Clinical Expression ◽  
Clinical Forms ◽  
Disseminated Disease ◽  
Tuberculosis In Children

Disseminated disease in children and pulmonary disease in adults constitute two major epidemiological and clinical forms of tuberculosis. Paradoxically, only a small fraction of infected individuals develop clinical tuberculosis, typically one form of the disease or the other. Mendelian and complex genetic predispositions to tuberculosis were reported recently in children and adults, respectively. Here, we argue that tuberculosis and its clinical expression largely reflect the underlying human genetic background.

Pathophysiology of Pediatric Movement Disorders

2003 ◽  
Vol 18 (1_suppl) ◽  
pp. S9-S24 ◽  
Author(s):  
Terence D. Sanger
Keyword(s):  
Effective Treatment ◽  
Movement Disorders ◽  
Recent Literature ◽  
Clinical Symptoms ◽  
Small Cluster ◽  
Clinical Expression ◽  
Cellular Pathology ◽  
Underlying Diseases ◽  
The Relationship

Pediatric movement disorders constitute a relatively small cluster of symptoms that can be associated with many different underlying diseases. To provide effective treatment, it is essential to understand the relationship between etiology and clinical expression. This article reviews the recent literature on several common pediatric movement disorders, including spasticity, dystonia, chorea, myoclonus, bradykinesia, and tics, and it discusses current models of physiology that may help link the cellular pathology of specific diseases to the expression of clinical symptoms. (J Child Neurol 2003:18:S9—S24).

scholarly journals Procedimentos invasivos e sepse em recém-nascidos de muito baixo peso: estudo descritivo

2016 ◽  
Vol 15 (4) ◽  
pp. 704
Author(s):  
Flavia do Valle Andrade Medeiros ◽  
Valdecyr Herdy Alves ◽  
Cristina Ortiz Sobrinho Valete ◽  
Eny Dórea Paiva ◽  
Diego Pereira Rodrigues ◽  
...  
Keyword(s):  
Birth Weight ◽  
Medical Records ◽  
Neonatal Intensive Care ◽  
Secondary Data ◽  
Delivery Room ◽  
University Hospital ◽  
Central Catheter ◽  
The Mean ◽  
The University ◽  
The City

Aim:  To  identify  the  type  of  sepsis  which  affected  newborns  withvery  low  birth  weight  and  invasive  care  procedures  to  which  they were  subjected  in  a university hospital in the city of Niterói, between the years 2008 and 2012. Method: This is a retrospective descriptive study using secondary data research in the medical records of  newborns  admitted  to  the  Neonatal  Intensive  Care  Unit  of  the  University  Hospital Antônio Pedro. Results: Of the 49 infants studied, 35 were diagnosed with early sepsis, eight with early and late sepsis and six late. The mean gestational age was 30.5 weeks and  the  weight  1.176,1  kg.  The  most  frequently  performed  care procedures  were: peripheral  venipuncture  (87.8%),  central  catheter  peripheral  venipuncture  (81.6%), assistance  to  ventilation  in  the  delivery  room  (69.4%)  and  intubation  in  the  delivery room  (28.6%).  Conclusion:  It is inferred  that the  lower  birth  weight is  associated  with the higher incidence of sepsis.

scholarly journals Immunocytochemical Labelling of Haematological Samples Using Monoclonal Antibodies

Cells ◽  
2021 ◽  
Vol 11 (1) ◽  
pp. 127
Author(s):  
Wendy N. Erber
Keyword(s):  
Bone Marrow ◽  
Alkaline Phosphatase ◽  
Monoclonal Antibodies ◽  
University Of Oxford ◽  
Alkaline Phosphatase Staining ◽  
Nuffield Department ◽  
Staining Methods ◽  
Biological Discovery ◽  
The University ◽  
Productive Time

I reflect on my experience working with David Y. Mason in the Leukaemia Research Laboratories in the Nuffield Department of Pathology at the University of Oxford in the early 1980s. This was soon after the first monoclonal antibodies had been produced, which led to an exciting and productive time in biological discovery and pathology diagnostics. A specific focus in the laboratory was the development of immunoenzymatic staining methods that would enable monoclonal antibodies to be applied in diagnostic practice. This paper describes the work that led to the performance of immuno-alkaline phosphatase staining on blood and bone marrow smears, the success of which changed leukaemia diagnosis.

scholarly journals Gambaran Penyakit Jantung Bawaan di Neonatal Intensive Care Unit RSUP Prof. Dr. R. D. Kandou Manado Periode 2013 - 2017

e-CliniC ◽  
2018 ◽  
Vol 6 (2) ◽  
Author(s):  
Berry R. Manopo ◽  
Erling D. Kaunang ◽  
Adrian Umboh
Keyword(s):  
Intensive Care Unit ◽  
Congenital Heart Disease ◽  
Intensive Care ◽  
Heart Disease ◽  
Neonatal Intensive Care Unit ◽  
Neonatal Intensive Care ◽  
Congenital Heart ◽  
Septal Defect ◽  
Clinical Symptoms ◽  
Shortness Of Breath

Abstract: Congenital heart disease (CHD) is a structural heart defect that results from abnormal embryological heart development, or persistence of some parts of the fetal circulation at birth. Congenital heart disease is divided into two categories, namely non-cyanotic congenital heart disease and cyanotic congenital heart disease. Congenital heart disease is caused by interactions between predisposing exogenous factors and endogenous factors. This study was aimed to obtain the profile of CHD in the Neonatal Intensive Care Unit (NICU) of Prof. Dr. R. D. Kandou Hospital Manado in the period 2013 - 2017. This was a retrospective descriptive study using medical record data of patients suffering from CHD in NICU from 2013 to 2017. The results showed that there were 27 patients suffering from CHD consisting of 24 non-cyanotic CHD patients (88.89%) and 3 cyanotic CHD patients (11.11%), and the highest incidence was Atrial Septal Defect (ASD) as many as 17 babies (62.96%). Congenital heart disease was more common in males as many as 18 babies (66.67%). In this study, the clinical symptoms oftenly found was shortness of breath (48.15%) and the most common diagnosis was pneumonia (48.15%). Conclusion: The most common CHD was non-cyanotic CHD. The most commonly found defect was ASD. Clinical symptoms that often arised was shortness of breath, pneumonia was the most common comorbid diagnosis, and the dominant gender of CHD was male.Keywords: non-cyanotic CHD, cyanotic CHD, atrial septal defect Abstrak: Penyakit jantung bawaan (PJB) merupakan defek jantung struktural yang terjadi akibat perkembangan jantung embriologis yang abnormal, atau persistensi dari beberapa bagian dari sirkulasi fetus saat lahir. Penyakit ini dibagi menjadi dua kategori yaitu penyakit jantung bawaan non sianosis dan yang sianosis. Penyakit jantung bawaan disebabkan oleh interaksi antara predisposisi faktor eksogen dan faktor endogen. Penelitian ini bertujuan untuk mendapatkan gambaran penyakit jantung bawaan di Neonatal Intensive Care Unit (NICU) RSUP Prof. Dr. R. D. Kandou Manado periode 2013-2017. Jenis penelitian ialah deskriptif retrospektif dengan menggunakan data rekam medik pasien yang menyandang penyakit jantung bawaan di NICU periode 2013-2017. Hasil penelitian mendapatkan dari 27 pasien dengan PJB, ditemukan PJB non sianotik berjumlah 24 bayi (88,89%) dan PJB sianotik berjumlah 3 bayi (11,11%) dengan angka kejadian terbanyak pada atrial septal defek (ASD) berjumlah 17 bayi (62,96%). Penyakit jantung bawaan paling banyak terjadi pada bayi yang berjenis kelamin laki-laki yaitu berjumlah 18 bayi (66,67%). Gejala klinis yang sering muncul ialah sesak napas (48,15%) dan diagnosis penyerta terbanyak yaitu pnemonia (48,15%). Simpulan: Penyakit jantung bawaan non sianosis merupakan diagnosis terbanyak, jenis ASD, dengan gejala klinis yang sering muncul yaitu sesak napas. Pneumonia merupakan diagnosis penyerta terbanyak. PJB tersering pada jenis kelamin laki-laki.Kata kunci: PJB sianotik, PJB, non sianotik, atrial septal defek

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