Accelerated Weight Gain Subsequent to Postnatal Slow Weight Gain and Overweight Risk in Early Childhood: A Nested Case-Control Study.

Background: The effects of accelerated weight gain (AWG) immediately after a postnatal slow weight gain (PSWG) on the risk of later overweight is unknown. The objective of this study was to assess the relationship between AWG after PSWG and overweight risk at 3 years of age.

Methods: This nested case-control study included 255 subjects born at term, appropriate for gestational age, and with normal birth weight but PSWG (< 0.

Elevation of Serum Levels of High-Sensitivity Procalcitonin, C-reactive Protein, and Amyloid A in a Prepubertal Child with Mumps Orchitis.

Background: Serum CRP concentrations are significantly elevated at the acute phase in patients with mumps orchitis, but little is known currently about other inflammatory biomarkers.

Methods: We report the measurements of serum inflammatory biomarkers [high-sensitivity procalcitonin (hs-PCT), C-reactive protein (CRP) and amyloid A] in a child with mumps orchitis.

Results: The patient's serum levels of CRP, hs-PCT, and amyloid A were highly increased at the acute phase, but returned to normal levels at convalescence.

Chest circumference in infancy predicts obesity in 3-year-old children.

The purpose of this study was to investigate the associations between chest circumference in infancy and rapid growth or obesity at 3 years of age. We conducted a retrospective observational study of 1353 children in Kumamoto, Japan. Data collected included chest circumference, head circumference, weight, and body mass index.

Taller stature after postnatal rapid weight gain in early infancy predicts overweight status at age 3.

Aim: To evaluate whether postnatal rapid weight gain in early infancy is associated with subsequent tall stature and being overweight at age 3, and taller stature after postnatal rapid weight gain predicts overweight status at age 3.

Methods: Data from a retrospective cohort study (time period 2003-2004, total number = 1353 subjects in Kumamoto, Japan) were used. The rate of weight gain during the first 3-4 months was calculated as 100 g/month, and postnatal rapid and slow growth were calculated by using weight standard deviation (SD).

An unusual case of thrombocytosis associated with concurrent cytomegalovirus and respiratory syncytial virus infection in an immunocompetent infant: possible roles of thrombopoietin and interleukin-6.

This is the case study of concurrent cytomegalovirus and respiratory syncytial virus infection in an infant who showed thrombocytosis, liver dysfunction and bronchiolitis. The combination of thrombocytosis with this co-infection is causally related to elevated levels of thrombopoietin and interleukin-6. This study represents the first such case ever recorded.

Elevated serum levels of interleukin-10 in children with acute rubella infection.

Interleukin-10 (IL-10) is known to be an anti-inflammatory cytokine which inhibits cell growth and cytokine production of both Th1 and Th2 cells. Using a human IL-10 ELISA kit we investigated whether serum IL-10 levels increased during the acute and convalescent stages in 45 children with rubella infections. Serum levels of IL-10 were markedly elevated in rubella patients during the acute stage, compared with those at the convalescent stage and those in healthy age-matched children (mean +/- SEM): 18.

Benign external hydrocephalus in a boy with autosomal dominant microcephaly.

In a 3-month-old boy with microcephaly, magnetic resonance imaging (MRI) revealed accumulation of bifrontal extracerebral fluid. Because of the typical MRI findings and the disappearance of these findings later on, he was diagnosed as a case of benign external hydrocephalus. Both his mother and maternal grandmother had microcephaly, without neurological or dysmorphic manifestations.

Perirenal mass of Langerhans cell histiocytosis.

A 15-month-old girl with Langerhans cell histiocytosis (LCH), Letterer-Siwe disease, was referred to our hospital in 1984. Whilst on treatment with cytotoxic drugs, a perirenal mass was detected and hydronephrosis became evident when she was 29 months old. Percutaneous nephrostomy tubes were placed in the pelvis, bilaterally and replaced every 6 months.

[Gene analysis of maple syrup urine disease (MSUD)].

Maple syrup urine disease (MSUD), an autosomal recessive hereditary metabolic disorder, is due to defective oxidative decarboxylation of the branched-chain alpha-ketoacids (BCKAs) derived from transamination of the three branched-chain amino acids, valine, leucine and isoleucine. The oxidative decarboxylation of three BCKAs is catalysed by the branched-chain alpha-ketoacid dehydrogenase (BCKDH) complex. BCKDH consists of three catalytic components: E1, E2 and E3.

Possible mapping of the gene for transient myeloproliferative syndrome at 21q11.2.

The parental origin of the extra chromosome 21 was studied in 20 patients with trisomy 21-associated transient myeloproliferative syndrome (TMS) using chromosomal heteromorphisms as markers; this was combined with a study of DNA polymorphisms in 5 patients. Of these, 10 were shown to result from duplication of a parental chromosome 21, viz., maternal in 8 and paternal in 2.

A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency.

We studied two unrelated male probands with mild ornithine transcarbamylase (OTC) (E.C.2.

Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease.

Branched chain alpha-ketoacid dehydrogenase (BCKDH) deficiency results in maple syrup urine disease (MSUD). We examined the molecular basis of familial cases of MSUD by analyzing the activity, subunit structure, mRNA sequence, and genome structure of the affected enzyme. The BCKDH activity in the proband with MSUD was approximately 6% of the normal control level.

Maple syrup urine disease caused by a partial deletion in the inner E2 core domain of the branched chain alpha-keto acid dehydrogenase complex due to aberrant splicing. A single base deletion at a 5'-splice donor site of an intron of the E2 gene disrupts the consensus sequence in this region.

We have studied the molecular bases of maple syrup urine disease by analyzing the activity, subunit structure, mRNA sequence, and the genome of the affected enzyme. The branched chain alpha-keto acid dehydrogenase (BCKDH) activity in the patient was 4.2-4.

Molecular defect in siblings with prolidase deficiency and absence or presence of clinical symptoms. A 0.8-kb deletion with breakpoints at the short, direct repeat in the PEPD gene and synthesis of abnormal messenger RNA and inactive polypeptide.

Prolidase deficiency is an autosomal recessive disorder with highly variable symptoms, including mental retardation, skin lesions, and abnormalities of collagenous tissues. In Japanese female siblings with polypeptide negative prolidase deficiency, and with different degrees of severity of skin lesions, we noted an abnormal mRNA with skipping of 192 bp sequence corresponding to exon 14 in lymphoblastoid cells taken from these patients. Transfection and expression analyses using the mutant prolidase cDNA revealed that a mutant protein translated from the abnormal mRNA had an Mr of 49,000 and was enzymatically inactive.

A disease with immune deficiency, skin abscesses, pancytopenia, abnormal bone marrow karyotype, and increased sister chromatid exchanges: an autosomal recessive chromosome instability syndrome?

A 19-year-old girl is described with microcephaly, short stature, mental retardation, pigmentation of the skin, and recurrent skin abscesses over the whole body. Her elder brother and sister both showed growth and developmental retardation, microcephaly, and anemia. Both died during childhood.

Molecular basis of argininemia. Identification of two discrete frame-shift deletions in the liver-type arginase gene.

Argininemia results from a deficiency of arginase (EC 3.5.3.

Maple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease.

A defect in the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase (BCKDH) complex is one cause of maple syrup urine disease (MSUD). In an attempt to elucidate the molecular basis of MSUD, we isolated and characterized a 1.35 kbp cDNA clone encoding the entire precursor of the E1 beta subunit of BCKDH complex from a human placental cDNA library.

Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene.

To define the molecular basis for the TaqI site alteration in the ornithine transcarbamylase (OTC) (E.C.2.

Maple syrup urine disease: a possible biochemical basis for the clinical heterogeneity.

Nine patients with maple syrup urine disease (MSUD), of whom eight were detected by mass-screening of neonates for inherited metabolic disease, were studied to determine possible relationships between clinical features and properties of the branched-chain alpha-keto acid dehydrogenase complex (BCKDH) in cultured lymphoblastoid cells. Based on their tolerance for leucine and on the clinical manifestations observed after 2 years of age, most could be classified into three types; classical (tolerate less than 600 mg of leucine per day, N = 2), intermediate (N = 3) and intermittent (N = 3) types. In the other patient two of these three phenotypes were present.