Unlabelled: ᅟ: Helicobacter bilis is a commensal bacterium causing chronic hepatitis and colitis in mice. In humans, enterohepatic Helicobacter spp. are associated with chronic hepatobiliary diseases.
Purpose: We aimed at understanding the microbial etiology in a patient with X-linked agammaglobulinemia presenting with suppurative cholangitis.
Methods: 16S rDNA PCR directly performed on a liver biopsy retrieved DNA of H. bilis.
Results: Clinical outcome resulted in the normalization of clinical and biological parameters under antibiotic treatment by a combination of ceftriaxone, metronidazole, and doxycyclin followed by a 2-week treatment with moxifloxacin and a 2-month treatment with azithromycin.
Conclusion: In conclusion, these data suggest a specific clinical and microbiological approach in patients with humoral deficiency in order to detect H. bilis hepatobiliary diseases.
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http://dx.doi.org/10.1007/s10875-017-0437-z | DOI Listing |
J Clin Endocrinol Metab
January 2025
Department of Health Research Methods, Evidence, and Impact, McMaster University, Hamilton, ON, Canada.
Objective: To examine the evidence addressing the management of X-linked hypophosphatemia (XLH) in children to inform treatment recommendations.
Methods: We searched Embase, MEDLINE, Web of Science, and Cochrane Central up to May 2023. Eligible studies included RCTs and observational studies of individuals less than 18yrs with clinically or genetically confirmed XLH.
Case Reports Immunol
December 2024
Department of Medical Oncology and Hematology, Oncology Institute, Cleveland Clinic Abu Dhabi (CCAD), Abu Dhabi, UAE.
X-linked moesin-associated immunodeficiency (X-MAID) is a recently identified combined immunodeficiency caused by a mutation in the moesin () gene. It is characterized by cytopenias, hypogammaglobulinemia, poor immune response to vaccine antigens, and increased susceptibility to early-life infections. We report a patient with adult-onset neutropenia, lymphopenia, inadequate response to the pneumococcal polysaccharide vaccine (PPSV23), and recurrent bacterial infections associated with a hemizygous deletion.
View Article and Find Full Text PDFJ Med Genet
January 2025
Centres de référence Maladies Rares « Neurogénétique » et « Anomalies du développement », Medical Genetics Departement, CHU de Bordeaux, Bordeaux, France.
Background: loss of function manifests across a broad spectrum of phenotypes, ranging from severe prenatal onset to asymptomatic cases. Bilateral periventricular nodular heterotopia (BPNH) consistently occurs in affected individuals. This retrospective study involving French patients with BPNH evaluates the prevalence of gene dosage anomalies and investigates genotype-phenotype correlations in a large cohort of French patients with BPNH.
View Article and Find Full Text PDFPediatr Transplant
February 2025
Division of Stem Cell Transplantation and Regenerative Medicine, Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.
Background: Disseminated mycobacterium poses a significant risk for patients with NEMO deficiency. Hematopoietic stem cell transplant (HSCT) corrects the NEMO defect in hematopoietic cells thus treating the immunodeficiency.
Methods: We present a patient with NEMO deficiency who successfully underwent HSCT despite a disseminated Mycobacterium szulgai infection.
Clin Pediatr Endocrinol
January 2025
Department of Pediatrics, The University of Tokyo, Tokyo, Japan.
Wieacker-Wolff syndrome (WRWF) is an X-linked genetic disorder characterized by neuromusculoskeletal abnormalities caused by loss-of-function variants of the gene. Here, we report the case of a male infant with WRWF manifesting as multiple joint contractures and congenital anomalies at birth. He underwent gastrostomy to treat the gastroesophageal reflux disease, which caused mixed apnea and transient bradycardia.
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