Congenital dyserythropoietic anemias (CDA) are disorders characterized by ineffective erythropoiesis and morphological anomalies in erythrocytes and erythroblasts. The purpose of this study is to identify the gene variants in patients diagnosed with CDA. We analyzed five unrelated patients and two siblings with a targeted panel of genes to CDA: CDAN1, CDIN1, SEC23B, KIF23, KLF1, and GATA1 genes. We found three novel variants in the CDIN1 gene (p.Leu136Val, p.Tyr247Cys, and p.Ile273Thr), four known variants in the SEC23B gene (p.Arg14Trp, p.Arg554Ter, p.Asp239Gly, and p.Ser436Leu), and one novel variant in the KIF23 gene (p.Leu945Trpfs*31). The in silico analysis of novel variants predict that they are pathogenic and, the in vitro study confirms the functional impact of the KIF23 variant on the protein location.Keywords CDA types Ib . II and III. CDIN1 . SEC23B and KIF23 genes
We describe the case of a 33‐week preterm infant who developed nonimmune hydrops fetalis secondary to a kaposiform hemangioendothelioma (KHE). The tumor was successfully treated with vincristine, prednisone, ticlopidine, and aspirin. KHE can be an unusual cause of hydrops fetalis; in such cases, diagnosis can be challenging since generalized edema can obscure KHE.
The familial tumor predisposition syndrome known as DICER1-pleuropulmonary blastoma (PPB) or DICER1 tumor predisposition syndrome was first described in 2009, and it involves an increased risk in the occurrence of various tumors, like cystic nephroma and PPB. Here is presented a girl with a cystic nephroma and two cystic lung lesions who was diagnosed years later with the DICER1 gene mutation. This mutation was also found in one of her parents. Thus, the screening for the DICER1 gene mutation may be important in children with certain/multiple tumors and their families.
Introduction Cerebellar mutism syndrome (CMS) is a common complication after posterior fossa tumor resection. It is characterized by a significant lack or loss of speech. Its biological origin remains unclear and there are no standardized treatments. However, bromocriptine seems to be a possible treatment for this condition. Case report In this paper, we present three cases of pediatric patients (4, 5, and 17-year old) who developed CMS after posterior fossa tumor surgery. They were treated with bromocriptine to improve neurological symptoms. Management and outcome: Bromocriptine was started at a low dose and was progressively increased to reach the minimum effective dose. After four months of treatment, a normal and fluid speech was observed in the three patients. No discontinuation due to adverse events were reported. Discussion Bromocriptine has shown to be an effective and safe treatment for CMS in pediatric patients after posterior fossa tumor resection.
Omeprazole significantly increases duodenal prostaglandin E synthesis. Prostaglandins are involved in hair growth regulation: prostaglandin E and prostaglandin F alpha stimulate hair growth, and prostaglandin D has an inhibitory effect. The use of omeprazole can cause acquired generalized hypertrichosis by increasing prostaglandin E levels.
BACKGROUND The use of azoles for antifungal prophylaxis after familial
allogeneic stem cell transplantation in children (SCT) is hindered by
adverse events and drug interactions especially in children affected by
sickle cell disease. Intermittent, higher dose of micafungin could be an
alternative. METHODS A prospective, observational, longitudinal,
single-center study was conducted between May 2015 and June 2018. The
study included 30 patients between 2 and 18 years old who underwent
allogeneic SCT and received prophylaxis with micafungin on alternating
days after the bone marrow engraftment phase. FINDINGS Fifty transplants
performed, 30 included prophylaxis against IFIs, with micafungin in an
alternating pattern according to the previously described protocol. The
indication for HSCT was hemoglobinopathies in 76.7%, acute leukemia in
20.0% and Fanconi anemia in 3.3%. The prophylaxis duration was 2.33
months (1.53 to 3.98). In our study, 40.0% (12/30) of the patients had
acute GVHD, and 6.7% (2/30) had chronic GVHD, which prolonged the
duration of alternating prophylaxis. No serious adverse effects of the
use of micafungin were observed in any of the patients. There was also
no breakthrough Invasive fungal infection (IFI) during alternating
prophylaxis. CONCLUSION: In selected patients, micafungin was well
tolerated without breakthrough IFI in our study.
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