RESUMEN

Landslides are a rare but hazardous geological phenomenon in Egypt, with the El Mokattam plateau situated in the eastern part of Cairo covering approximately 64 km2 and ranging in elevation from 50 to 205 m. This study aims to identify and monitor landslides in the area using various geophysical methods. Twelve Electrical resistivity tomography (ERT) profiles,twenty-two P-wave Seismic Refraction profiles, twenty-two Refraction microtremors profiles, three ground penetrating radar (GPR) profiles and borehole data were utilized to analyze the occurrence of landslides in the El Mokattam Plateau. Additionally, we employed a relatively new geophysical method, studying high-frequency microtremor sounds emitted from landslide collapses at 22 stations. Our analysis identified steep slopes, jointed or fractured rocks, and irrigation water as primary factors contributing to landslides, with irrigation water acting as a lubricant for clays and promoting ground sliding. Examination of high-frequency microtremor sounds revealed a potential correlation between vertical high-frequency spectra at 100 Hz and landslide collapses, which aids in the identification of landslide-prone zones. Therefore, we conclude that seismological studies, particularly spectral analysis of high-frequency and low-amplitude sounds (microtremors) emitted from soil, offer a promising approach for investigating landslides.

RESUMEN

Acute undifferentiated leukemia (AUL) is a very rare hematologic neoplasm that expresses no markers specific for either myeloid or lymphoid lineages. While commonly observed in several acute leukemias, KMT2A rearrangements in AUL have been rarely reported in the literature. We report the third case to our knowledge of AUL harboring a KMT2A rearrangement. Furthermore, the KMT2A/GIMAP8 gene fusion identified in this case represents a novel KMT2A rearrangement.

Asunto(s)

RESUMEN

BACKGROUND: We studied 2 unrelated patients with immune thrombocytopenia and autoimmune hemolytic anemia in the setting of acute infections. One patient developed multisystem inflammatory syndrome in children in the setting of a severe acute respiratory syndrome coronavirus 2 infection. OBJECTIVES: We sought to identify the mechanisms underlying the development of infection-driven autoimmune cytopenias. METHODS: Whole-exome sequencing was performed on both patients, and the impact of the identified variants was validated by functional assays using the patients' PBMCs. RESULTS: Each patient was found to have a unique heterozygous truncation variant in suppressor of cytokine signaling 1 (SOCS1). SOCS1 is an essential negative regulator of type I and type II IFN signaling. The patients' PBMCs showed increased levels of signal transducer and activator of transcription 1 phosphorylation and a transcriptional signature characterized by increased expression of type I and type II IFN-stimulated genes and proapoptotic genes. The enhanced IFN signature exhibited by the patients' unstimulated PBMCs parallels the hyperinflammatory state associated with multisystem inflammatory syndrome in children, suggesting the contributions of SOCS1 in regulating the inflammatory response characteristic of multisystem inflammatory syndrome in children. CONCLUSIONS: Heterozygous loss-of-function SOCS1 mutations are associated with enhanced IFN signaling and increased immune cell activation, thereby predisposing to infection-associated autoimmune cytopenias.

Asunto(s)

RESUMEN

Extramedullary myeloid sarcomas are extramedullary tumors of immature myeloid cells, often associated with acute myeloid leukemia (AML), chronic myeloid leukemia (CML), or other myeloproliferative diseases. They are usually found in connective/soft tissues, skin, breast and gastrointestinal system. Pancreas is an uncommon site to be involved. We present a case of pancreatic myeloid sarcoma presenting with symptoms of acute pancreatitis including epigastric pain associated with nausea and vomiting, with imaging findings (abdominal CT) suggestive of pancreatic carcinoma, both presenting as hypoattenuating mass. It is important to consider myeloid sarcoma as a differential for pancreatic mass, especially given the history of AML as in our patient, which would lead to timely diagnosis and initiation of chemotherapy.

Asunto(s)

Asunto(s)

RESUMEN

Immune thrombocytopenia (ITP) in children is a relatively uncommon and generally benign condition presenting as abrupt onset of bruising, petechiae and thrombocytopenia in an otherwise healthy child due to production of anti-platelet autoantibodies. Diagnosis is largely clinical and laboratory investigation should be kept to a minimum. Indications for treatment have not been standardized and include bleeding, parental anxiety and quality of life. Multiple treatments are available that have been proven to increase the platelet count; the most commonly employed include IVIG, steroids and WinRho (anti-D). Intracranial hemorrhage is the most serious potential complication but is extremely rare and splenectomy is reserved for chronically symptomatic patients who have not responded to other modalities. Identification of molecular targets may be a promising avenue for future research.

Asunto(s)

RESUMEN

OBJECTIVES: The Increased Flow Utilizing Subcutaneously-Enabled (INFUSE)-Pediatric Rehydration Study was designed to assess efficacy, safety, and clinical utility of recombinant human hyaluronidase (rHuPH20)-facilitated subcutaneous rehydration in children 2 months to 10 years of age. METHODS: Patients with mild/moderate dehydration requiring parenteral treatment in US emergency departments were eligible for this phase IV, multicenter, single-arm study. They received subcutaneous injection of 1 mL rHuPH20 (150 U), followed by subcutaneous infusion of 20 mL/kg isotonic fluid over the first hour. Subcutaneous rehydration was continued as needed for up to 72 hours. Rehydration was deemed successful if it was attributed by the investigator primarily to subcutaneous fluid infusion and the child was discharged without requiring an alternative method of rehydration. RESULTS: Efficacy was evaluated in 51 patients (mean age: 1.9 years; mean weight: 11.2 kg). Initial subcutaneous catheter placement was achieved with 1 attempt for 46/51 (90.2%) of patients. Rehydration was successful for 43/51 (84.3%) of patients. Five patients (9.8%) were hospitalized but deemed to be rehydrated primarily through subcutaneous therapy, for a total of 48/51 (94.1%) of patients. No treatment-related systemic adverse events were reported, but 1 serious adverse event occurred (cellulitis at infusion site). Investigators found the procedure easy to perform for 96% of patients (49/51 patients), and 90% of parents (43/48 parents) were satisfied or very satisfied. CONCLUSIONS: rHuPH20-facilitated subcutaneous hydration seems to be safe and effective for young children with mild/moderate dehydration. Subcutaneous access is achieved easily, and the procedure is well accepted by clinicians and parents.

Asunto(s)