Allogeneic hematopoietic stem cell transplantation: A single-center experience, 2017 to 2021.

Introduction: Hematopoietic stem cell transplantation (HSCT) remains a critical treatment for advanced or high-risk hematological malignancies, posing challenges such as finding suitable donors and managing of graft-versus-host disease (GvHD). This study estimates 3-year overall survival in patients who underwent HSCT at our referral service in the state of Minas Gerais, Brazil.

Material And Methods: This retrospective observational cohort study involved 41 patients who received HSCT between 2017 and 2021 at the Felício Rocho Hospital.

Hypertension and obesity in Italian school children: The role of diet, lifestyle and family history.

Background And Aims: In Italy, the prevalence of hypertension, obesity and overweight in paediatric patients has increased in the past years. The purpose of this study was to analyse the relationship between obesity and hypertension and related factors in Italian students.

Methods And Results: We studied 2007 healthy individuals between the ages of 6 and 17 years of age (998 males and 1009 females) attending schools in the cities of Varese (northern Italy), Rome (central Italy) and Catanzaro (southern Italy).

Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype.

We report on three sibs who have autosomal recessive Clericuzio-type poikiloderma neutropenia (PN) syndrome. Recently, this consanguineous family was reported and shown to be informative in identifying the C16orf57 gene as the causative gene for this syndrome. Here we present the clinical data in detail.

Long-term treatment with recombinant insulin-like growth factor 1 (IGF-1) in a child with IGF-1 gene mutation.

We assessed the efficacy and safety of recombinant human insulin-like growth factor 1 (IGF-1) therapy over a period of 7.5 years in a child with severe IGF-1 deficiency. Recombinant human IGF-1 was administered subcutaneously in doses between 40 and 80 microg/kg once daily.

Precocious puberty in Sanfilippo IIIA disease: diagnosis and follow-up of two new cases.

To date the association between mucopolysaccharidosis (MPS) IIIA and precocious puberty has been found in only three polish patients. We observed two children affected by MPS IIIA with central precocious puberty (CPP) both treated with GnRH agonists. The occurrence of CPP in both patients with MPS IIIA suggests that it is necessary to look for an association between the two conditions.

Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients.

Deficiency of dihydropteridine reductase causes a variant form of phenylketonuria associated with a devastating neurological disease characterized by mental retardation, hypokinesis and other features relating to basal ganglia disorder. Hyperphenylalaninaemias with tetrahydrobiopterin deficiency make up about 1-3% of all hyperphenylalaninaemias. We describe three patients from Calabria, a southern region of Italy, who have a dihydropteridine reductase deficiency, caused by the same mutation (p.

Neonatal adrenal hemorrhage presenting as contralateral scrotal ematoma.

Neonatal adrenal hemorrhage may rarely present as scrotal hematoma. This condition can simulate a torsion of the testis requiring an immediate surgical exploration of the scrotum. Ultrasonographic study of the abdomen can find out intraperitoneal or retroperitoneal bleeding in order to avoid unnecessary surgical intervention.

Beta-cell dysfunction in classic transient neonatal diabetes is characterized by impaired insulin response to glucose but normal response to glucagon.

Objective: To investigate beta-cell function and the long-term health of four case subjects presenting with chromosome 6-associated transient neonatal diabetes (TND).

Research Design And Methods: Two unrelated case subjects presenting with paternal uniparental isodisomy of chromosome 6 (UPD6) and two siblings with a paternally inherited duplication of 6q24 were studied. Three case subjects presented with neonatal diabetes that recurred at 4-17 years, while diabetes was incidentally discovered in the other case subject at 14 years of age.

Adrenocortical tumor in a boy: final height is not impaired despite a severe advancement of bone age.

The long-term sequelae on the growth pattern in successfully resected virilizing adrenal tumors (ACT) have not been clearly defined. We report on 10 years follow-up of a boy with virilizing ACT until the attainment of final height. This is the first clinical description in a boy with a marked advancement of bone age, indicating that despite advanced physical and skeletal maturity the prognosis on growth is good, provided that regression of virilization is obtained.

Construction and characterization of a bacterial artificial chromosome (BAC) library for the A genome of wheat.

A genomic bacterial artificial chromosome (BAC) library of the A genome of wheat has been constructed. Triticum monococcum accession DV92 was selected for this purpose because it is a cultivated diploid wheat and one of the parental lines used in the construction of a saturated genetic map. Leaves from this accession were used to isolate high-molecular-weight DNA from nuclei.

Can a generalized kindling seizure induce a reward state?

The postictal behavioral depression (PBD), characterized by behavioral immobility and unresponsiveness to environmental stimuli, observed after a stage 5 kindling seizure is opioid dependent. Morphine injection prolongs while naloxone and naltrexone (opioid antagonists) reduce or eliminate PBD. Opioids have clear rewarding actions that can be easily detected by place preference conditioning (PPC).

Genetic and physical characterization of grain texture-related loci in diploid wheat.

Endosperm texture, i.e. the hardness or softness of the grain, is an important quality criterion in cereals because it determines many grain end-use properties.

Characterization of mycobacterial isolates phylogenetically related to, but different from Mycobacterium simiae.

The use of high-performance liquid chromatography (HPLC) revealed four previously unreported profiles within a group of mycobacteria consisting of 14 clinical isolates. These mycobacteria, whose identification by conventional tests appeared problematic, mostly resembled Mycobacterium avium complex or Mycobacterium simiae. Genetic analysis revealed, within this group, six different nucleic acid sequences in a hypervariable 16S rRNA segment, but all the isolates appeared to be phylogenetically related to M.

[Effects of the treatment using synthetic LH-RH nasal spray in cryptorchism].

The effects of hormonal treatment with synthetic LH-RH (Kryptocur) applied as nasal spray at a dose of 1.2 mg daily over a period of 28 days were investigated on 62 undescended testes in 40 boys divided in two groups: below and above 6 years. Only retained testes were treated.