Publications by authors named "Ghamar Taj Khotaei"

Article Synopsis
  • - The study explores the previously unknown function of the C2orf69 gene, linking it to a severe syndrome in 20 children characterized by fatal autoinflammation and progressive brain issues.
  • - Genetic analysis revealed homozygous loss-of-function variants in C2orf69, suggesting its key role in brain and immune system development through its influence on mitochondrial function and GBE1 levels.
  • - Experimentation on zebrafish demonstrated that inactivation of C2orf69 leads to early death due to epilepsy and brain inflammation, further supporting its crucial role in neural and immune health.
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Article Synopsis
  • The study investigates genetic changes in 38 Iranian patients with autosomal recessive chronic granulomatous disease (AR-CGD) linked to defects in the NCF1 gene, which encodes a component of the NADPH oxidase enzyme.
  • It was found that AR-CGD is the most common form of CGD in Iran, primarily due to consanguineous marriages, with patients frequently showing skin problems (53%), respiratory infections (50%), and swollen lymph nodes (29%).
  • Five mutations in the NCF1 gene were identified, with the most prevalent being a homozygous delta GT deletion in over 63% of families, underscoring the importance of genetic testing for early diagnosis and potential treatment options like stem
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Adenovirus is a common cause of acute upper respiratory tract infection and rarely causes respiratory failure or septic shock in immunocompetent patients. Severe disease is confined to immunocompromised patients. Human bocavirus (HBoV) is known as the fourth most common virus in respiratory samples from healthy subjects.

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Background: Chronic granulomatous disease (CGD) is a rare immunodeficiency due to a genetic defect in one of the NADPH-oxidase components. We studied CGD inheritance forms (autosomal recessive (AR) or X-linked (XL)) and AR-CGD subtypes in Iran.

Methods: Clinical and functional investigations were conducted in 93 Iranian CGD patients from 75 families.

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Vancomycin is a a glycopeptide antibiotic with bacetiocidal effects on gram positive bacteria by interfering with cell wall synthesis. The necessity for monitoring of serum vancomycin concentrations (SVCs) has been recently noticed at many institutions because of concerns for its nephrotoxicity. We aimed to describe the SVCs monitoring in pediatric patients, in an effort to determine subtherapeutic or toxic levels.

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Background And Purpose: The aim of this study was to determine the frequency of adverse reactions to antibiotics by organ system in hospitalized children in the infectious ward of a pediatric diseases referral center in Iran.

Methods: All patients treated with antibiotics were evaluated daily for the presence of ADRs during a 5-month period. For each suspected ADR, a specialized questionnaire was completed in order to obtain the information necessary for analysis of ADRs.

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Background And Purpose: Shunt infection represents a particularly morbid condition, which can also result in mortality. In order to decrease the high morbidity and mortality rates, prevention is an essential step. The purpose of this study was to compare the prophylactic use of ceftriaxone and trimethoprim-sulfamethoxazole (SXT) for the prevention of ventriculoperitoneal (VP) shunt infection.

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Bacille Calmette-Guérin (BCG) osteomyelitis is a very rare complication of BCG vaccination. We report a 14-month-old boy who received BCG vaccination at birth. He developed pain and swelling in his left calf at 11 months of age.

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A case of purulent spinal epidural abscess in a 20-day-old girl is presented. The patient had symptoms of fever, localized back pain and swelling over the interscapular area. The diagnosis was made by magnetic resonance imaging.

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