scholarly journals Chediak-Higashi Syndrome in Accelerated Phase, a Case Report

2021 ◽  
Vol 1 (1) ◽  
Author(s):  
Artriz R
Keyword(s):  
Hemophagocytic Syndrome ◽  
Respiratory Infections ◽  
Autosomal Recessive Inheritance ◽  
Oculocutaneous Albinism ◽  
Clinical Findings ◽  
Genetic Abnormalities ◽  
History Of ◽  
Chediak Higashi Syndrome ◽  
Lysosomal Transport ◽  
Pro Inflammatory Cytokines

Chediak-Higashi syndrome corresponds to a series of genetic abnormalities in lysosomal transport, of autosomal recessive inheritance, characterized by partial oculocutaneous albinism and recurrent infections,1 usually between 7 and 10 years of age the accelerated phase of the disease, where developing hemophagocytic syndrome, given by a set of clinical findings, laboratory and histological studies where phagocytosis is prominent,2 with a failure in the regulation of the immune system due to an excessive production of pro-inflammatory cytokines that coexists with a dysfunction of natural killer cells and T lymphocytes, which leads to lethal development. We present a case of a 13-month-old patient, natural and from Pregonero, with a family history of consanguinity, recurrent respiratory infections, and a characteristic phenotype of Chediak-Higashi syndrome, without prior diagnosis or controls for this pathology, who presents with hemophagocytic syndrome leading to its death in 20 days.

Hermansky-Pudlak Syndrome and Chediak-Higashi Syndrome: Disorders of Vesicle Formation and Trafficking

2001 ◽  
Vol 86 (07) ◽  
pp. 233-245 ◽  
Author(s):  
Marjan Huizing ◽  
Yair Anikster ◽  
William Gahl
Keyword(s):  
Autosomal Recessive ◽  
Dense Body ◽  
Oculocutaneous Albinism ◽  
Clinical Findings ◽  
Vesicle Formation ◽  
Platelet Storage ◽  
A Subunit ◽  
Hermansky Pudlak Syndrome ◽  
Chediak Higashi Syndrome ◽  
Golgi Network

SummaryThe rare autosomal recessive metabolic disorders Hermanky-Pudlak syndrome (HPS) and Chediak-Higashi syndrome (CHS) share the clinical findings of oculocutaneous albinism and a platelet storage pool deficiency. In addition, HPS exhibits ceroid lipofuscinosis and CHS is characterized by infections and an accelerated phase. The two disorders result from defects in vesicles of lysosomal lineage. Of the two known HPS-causing genes, HPS1 has no recognizable function, while ADTB3A codes for a subunit of an adaptor complex responsible for new vesicle formation from the trans-Golgi network. Other HPS-causing genes are likely to exist. The only known CHS-causing gene, LYST, codes for a large protein of unknown function. In general, HPS appears to be a disorder of vesicle formation and CHS a defect in vesicle trafficking. These diseases and their variants mirror a group of mouse hypopigmentation mutants. The gene products involved will reveal how the melanosome, platelet dense body, and lysosome are formed and trafficked within cells.

PERAN IBU DALAM PENINGKATAN SISTEM IMUN ANAK DENGAN INFEKSI SALURAN PERNAFASAN AKUT

2019 ◽  
Vol 11 (2) ◽  
pp. 79-86
Author(s):  
Cindy Ayustin Noya ◽  
Angkit Kinasih ◽  
Venti Agustina ◽  
R.Rr Maria Dyah Kurniasari
Keyword(s):  
Immune System ◽  
Acute Respiratory Infection ◽  
Lower Respiratory Tract ◽  
Research Method ◽  
Respiratory Infections ◽  
Acute Respiratory Infections ◽  
Clean Environment ◽  
History Of ◽  
Qualitative Descriptive

Infeksi saluran pernafasan akut atau yang sering disebut ISPA merupakan infeksi pada saluran pernafasan baik saluran pernafasan atas atau bawah.ISPA juga kebanyakan terjadi pada anak balita karena daya tahan tubuh mereka tidak kuat dalam menghadapi penyakit ISPA. ISPA mengakibatkan kematiansekitar15%-20% per tahun pada usia balita di Negara berkembang. Tujuan penelitian ini adalah untuk mengetahui dan menganalisa peran ibu dalam meningkatkan sistem imun anak dengan ISPA.Metode penelitian yang digunakan dalam penelitian ini adalah kualitatif deskriptif dengan sampel purposive sampling.Populasi dan sampel penelitian ini adalah ibu yang mempunyai anak dengan riwayat dan saat ini menderita penyakit ISPA di Batu Gajah Kota Ambon.Partisipan dalam penelitian ini berjumlah 5 orang. Hasil dari penelitian mendapati 4 kategori yaitu pemberian nutrisi pada anak untuk memenuhi kebutuhan agar sistem imunnya terjaga, kebersihan lingkungan, peran ibu dalam melakukan pencegahan pada anaknya yang mengalami ISPA, dan  peran ibu dalam menjaga dan mempertahankan kesehatan anaknya.   Kata kunci: peran ibu, sistem imun, ispa THE ROLE OF MOTHERS IN INCREASING IMMUNE SYSTEM OF CHILDREN WITH ACUTE RESPIRATORY INFECTION    ABSTRACT Acute respiratory infections or often called ARI is an infection of the upper or lower respiratory tract. ARI occurs mostly in children under the age of five because their endurance is not strong in dealing with ARI. ARI results in deaths of around 15%-20% per year at the age of under-five in developing countries. The purpose of this study was to determine and analyze the role of mothers in improving the immune system of children against ARI. The research method used in this study was qualitative descriptive with a purposive sampling sample. Respondents and samples of this study were five mothers who had children with a history of ARI and currently suffering from the disease in Batu Gajah, Ambon City. The results of the study found 4 categories, namely providing nutrition to children to meet their needs so that their immune systems are maintained, clean environment, mother's role in preventing children with ARI, and mother's role to preserve and maintain the health of their children. The findings indicated that in terms of coping or improving the immune system of a child to avoid ARI, it is necessary to have role the of mothers in providing nutrition so that the immune system is boosted, besides that the mother can prevent and protect her child from various diseases, especially ARI. Keywords: role of mothers, immune system, acute respiratory infections

scholarly journals Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis

2021 ◽  
Author(s):  
Natalie Frede ◽  
Jessica Rojas-Restrepo ◽  
Andrés Caballero Garcia de Oteyza ◽  
Mary Buchta ◽  
Katrin Hübscher ◽  
...  
Keyword(s):  
Screening Method ◽  
Cost Effective ◽  
Illumina Miseq ◽  
Clinical Findings ◽  
Genetic Defects ◽  
Chronic Mucocutaneous Candidiasis ◽  
Mucocutaneous Candidiasis ◽  
Serious Infections ◽  
History Of ◽  
Panel Sequencing

AbstractHyper-IgE syndromes and chronic mucocutaneous candidiasis constitute rare primary immunodeficiency syndromes with an overlapping clinical phenotype. In recent years, a growing number of underlying genetic defects have been identified. To characterize the underlying genetic defects in a large international cohort of 275 patients, of whom 211 had been clinically diagnosed with hyper-IgE syndrome and 64 with chronic mucocutaneous candidiasis, targeted panel sequencing was performed, relying on Agilent HaloPlex and Illumina MiSeq technologies. The targeted panel sequencing approach allowed us to identify 87 (32 novel and 55 previously described) mutations in 78 patients, which generated a diagnostic success rate of 28.4%. Specifically, mutations in DOCK8 (26 patients), STAT3 (21), STAT1 (15), CARD9 (6), AIRE (3), IL17RA (2), SPINK5 (3), ZNF341 (2), CARMIL2/RLTPR (1), IL12RB1 (1), and WAS (1) have been detected. The most common clinical findings in this cohort were elevated IgE (81.5%), eczema (71.7%), and eosinophilia (62.9%). Regarding infections, 54.7% of patients had a history of radiologically proven pneumonia, and 28.3% have had other serious infections. History of fungal infection was noted in 53% of cases and skin abscesses in 52.9%. Skeletal or dental abnormalities were observed in 46.2% of patients with a characteristic face being the most commonly reported feature (23.1%), followed by retained primary teeth in 18.9% of patients. Targeted panel sequencing provides a cost-effective first-line genetic screening method which allows for the identification of mutations also in patients with atypical clinical presentations and should be routinely implemented in referral centers.

#37: Clinical Characterization of the Cases Relating to the Outbreak of Clostridioides difficile, in a Third-level Hospital in Mexico City: Diagnosis, Treatment, and Relay

2021 ◽  
Vol 10 (Supplement_1) ◽  
pp. S16-S16
Author(s):  
Ortiz Samuel ◽  
Martínez María Elena ◽  
Morayta Ramírez A
Keyword(s):  
Antibiotic Use ◽  
Clinical Findings ◽  
Prevention Measures ◽  
Clostridioides Difficile ◽  
Young Infants ◽  
Plastic Bags ◽  
History Of ◽  
Initial Episode ◽  
Group Sex ◽  
Healthcare Associated

Abstract Background Clostridioides difficile is an important cause of healthcare-associated infections. The epidemiology of C. difficile infection (CDI) in children has changed over the past few decades. There is now a higher incidence in hospitalized children, and there has been an emergence of community-onset infection. Neonates and young infants have high rates of colonization but rarely have symptoms. The well-known risk factor for CDI in children age 2 years or older is antibiotic use. Inflammatory bowel disease and cancer are associated with increased incidence and severity of CDI. Vancomycin or fidaxomicin is recommended for an initial episode of CDI. In environments where access to Vancomycin or Fidaxomycin is limited, it is suggested to use metronidazole for an initial episode of nonsevere CDI only. Methods A series of cases were carried out, in a study period from March to May 2018, total cases 8; the age group, sex, basic diagnosis, clinical findings, diagnostic method, and outcome in hospitalized patients in the Pediatric division of the “CMN 20 de Noviembre, ISSSTE” were described, where there is a total of 377 Sensitive beds, and 53 beds in the pediatric area of which 30 are not sensitive. Results We analyzed 8 cases of diarrhea with identification of C. difficile, in a period of 3 months, where there was a total of 148 admissions to the division of Pediatrics (100%) and presented a prevalence of 0.05% of the total income. Of those 8 cases reported, 37.5% were women and 62.5% men; The age fluctuated between 6 months and 18 years. All children had associated comorbidities. The frequency and type of comorbidities were Cancer 87.5% (Leukemias and Solid Tumors) and Neurological 12.5% ​​(Arterial Malformation and Neurological Sequelae). The main symptom that occurred was mucous diarrhea in 100% of patients, abdominal pain in 25% and evacuation with blood in 12.5% ​​of cases. All had a history of prior treatment with 100% broad-spectrum antibiotics, in a period of less than one month. All were treated with metronidazole (100%) and all presented clinical improvement, without complications; Similarly, all were diagnosed by PCR for toxin B (100%). The attributable risk of presenting Clostridioides disease in patients with Leukemia is 0.11. Conclusions Patients with Leukemia were the most affected during the C. difficile outbreak, of which 11 out of 100 of these patients are at risk of presenting C. difficile disease. The most important thing in these cases is prevention. Therefore, specific prevention measures were implemented to reduce the possibility of future outbreaks, such as handwashing with chlorexidine, contact isolation, handwashing every time there is contact with the patient, use of gloves when performing procedures, insulation of bedding in plastic bags and training of health personnel.

scholarly journals Serial Observations and Mutational Analysis of an Adoptee with Family History of Hypertrophic Cardiomyopathy

2010 ◽  
Vol 2010 ◽  
pp. 1-4
Author(s):  
Bronwyn Harris ◽  
Jean P. Pfotenhauer ◽  
Cheri A. Silverstein ◽  
Larry W. Markham ◽  
Kim Schafer ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Hypertrophic Cardiomyopathy ◽  
Family History ◽  
Mutational Analysis ◽  
Clinical Findings ◽  
Dominant Mode ◽  
Natural Mother ◽  
History Of ◽  
In Cis ◽  
Inherited Cardiac Disease

Hypertrophic cardiomyopathy (HCM) is an inherited cardiac disease with an autosomal dominant mode of transmission. Comprehensive genetic screening of several genes frequently found mutated in HCM is recommended for first-degree relatives of HCM patients. Genetic testing provides the means to identify those at risk of developing HCM and to institute measures to prevent sudden cardiac death (SCD). Here, we present an adoptee whose natural mother and maternal relatives were known be afflicted with HCM and SCD. The proband was followed closely from age 6 to 17 years, revealing a natural history of the progression of clinical findings associated with HCM. Genetic testing of the proband and her natural mother, who is affected by HCM, revealed that they were heterozygous for both the R719Q and T1513S variants in the cardiac beta-myosin heavy chain (MYH7) gene. The proband's ominous family history indicates that the combination of the R719Q and T1513S variantsin cismay be a “malignant” variant that imparts a poor prognosis in terms of the disease progression and SCD risk.

SUDDEN AND UNEXPECTED DEATH IN INFANCY AND CHILDHOOD

PEDIATRICS ◽  
1956 ◽  
Vol 17 (5) ◽  
pp. 663-699 ◽  
Author(s):  
Lester Adelson ◽  
Eleanor Roberts Kinney
Keyword(s):  
Sudden Death ◽  
Respiratory Tract ◽  
Pulmonary Edema ◽  
Cause Of Death ◽  
Respiratory Infections ◽  
Past History ◽  
Prognostic Significance ◽  
Control Group ◽  
Unexpected Death ◽  
History Of

One hundred twenty-six consecutive cases of sudden and unexpected death in children between the ages of 10 days and 2 years were studied. Anatomic and microbiologic studies were carried out and an investigation was made at the home in each case. Both sexes were equally vulnerable. Eighty-five per cent of the children were less than 6 months old. The peak incidence was at 2 months. Ninety-nine children were found dead and 27 were observed to die. The same variety and severity of anatomic lesions were found in both categories. Sixteen children in the same age range who died rapidly following known lethal voilence were studied as a control group. Of the nontraumatic sudden death ("unexplained") series 106 (84 per cent) revealed microscopic inflammatory changes in 1 or more sites of the respiratory tract, and histologic evidence of inflammatory disease in other organs was seen in many cases. Acute hemorrhagic pulmonary edema was a common anatomic finding (82 per cent). It was usually accompanied by visceral and cerebral congestion and hemorrhages. Special investigative procedures including staining of the liver for glycogen, determination of the glucose level of the cerebrospinal fluid and study of the adrenals for sudanophilia and birefringence indicated that these factors are without significance in sudden death in early life. A variety of congenital and acquired abnormalities, the presence of which had been unsuspected, was demonstrated at necropsy. Eleven per cent of the 126 cases showed no anatomic abnormalities other than the circulatory phenomena. No single bacterial organism or group of organisms was isolated with any degree of consistency from any site. All attempts to isolate viruses were negative. Ante-mortem symptomatology, circumstances of death, history of contact with infectious disease, and past history of repeated respiratory infection were without prognostic significance and were not pathognomic as to the cause of death. Eighty children had histories of mild illness for 48 hours or less prior to death. Fifty-three children had received some form of treatment during this interval. Sixty-nine children had histories of contact with infectious diseases. Forty-one children had past histories of repeated respiratory infections. The cases came from every social level. Sixty-five per cent had received good care while 35 per cent had received poor care. Many of the control cases showed inflamatory disease in the respiratory tract similar to that seen in the natural death group as well as anatomic evidence of lethal trauma. The inflammatory lesions are thus not incompatible with life. Several hypotheses are offered in an effort to link microscopic inflammatory respiratory tract changes with hemorrhagic pulmonary edema and sudden death. Anatomic and anamnestic evidence exclude mechanical suffocation by bedding. No statement as to the cause of death of an infant who has died suddenly and unexpectedly should be made without complete gross and microscopic studies and thorough investigation of the scene and circumstances of death.

Metoclopramide-Induced Methemoglobinemia

PEDIATRICS ◽  
1988 ◽  
Vol 82 (3) ◽  
pp. 364-366
Author(s):  
Gregory L. Kearns ◽  
Debra H. Fiser
Keyword(s):  
Methylene Blue ◽  
Gastroesophageal Reflux ◽  
Respiratory Distress ◽  
Reductase Activity ◽  
Male Infant ◽  
Clinical Findings ◽  
Oxyhemoglobin Saturation ◽  
History Of ◽  
Motor Restlessness ◽  
Hemoglobin M

The case of a 3-week-old male infant is described. After receiving an iatrogenic overdose of metoclopramide (1.0 mg/kg every six hours) throughout a 36-hour period for the treatment of suspected gastroesophageal reflux, he became cyanotic, lethargic, and irritable, he fed poorly, and he had diarrhea and respiratory distress. Methemoglobinemia (20.5%) and reduced oxyhemoglobin saturation (79%) were identified. The patient had an excellent clinical response following a single IV dose of methylene blue. Subsequently, methemoglobin reductase activity was normal and there was no measurable hemoglobin M. The diagnosis of methemoglobinemia should be considered in any infant receiving large doses of metoclopramide who has clinical findings of cyanosis, ashen color, or a history of lethargy and/or motor restlessness.

CAT SCRATCH SYNDROME

PEDIATRICS ◽  
1952 ◽  
Vol 10 (3) ◽  
pp. 311-318
Author(s):  
WILLIAM J. WATERS ◽  
SEYMOUR S. KALTER ◽  
JOHN T. PRIOR
Keyword(s):  
Skin Test ◽  
Laboratory Tests ◽  
Complement Fixation Test ◽  
Complement Fixation ◽  
Clinical Laboratory ◽  
Clinical Course ◽  
Diagnostic Value ◽  
Clinical Findings ◽  
Pathologic Findings ◽  
History Of

The clinical, laboratory and pathologic findings of a series of cases of cat scratch syndrome have been reviewed. In spite of a variable clinical course, certain features associated with a selected group of laboratory tests appear to be constant enough to be of diagnostic value. A history of contact with a cat and/or scratch which is usually associated with a peripheral skin lesion, lack of lymphangitis, presence of regional lymphadenopathy with tenderness to palpation are the most constant clinical findings. Fever, so frequently emphasized as a characteristic clinical sign, may be extremely variable in type and duration or entirely absent. A skin test with cat scratch antigen has been positive in all cases. Lacking this antigen, a negative Frei skin test in conjunction with a positive complement fixation test (Lygranum C. F.) is suggestive evidence for the diagnosis. With positive evidence from the above data, biopsy of an affected gland with its relatively nonspecific pathologic picture is not considered essential for the establishment of the diagnosis of cat scratch syndrome.

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