Critical body fat percentage required for puberty onset: the Taiwan Pubertal Longitudinal Study.

PURPOSE: Prepubescent body fat percentage (BFP) is associated with puberty onset; however, the association between the timing of puberty onset and BFP remains unclear. This study aimed to determine whether and how the timing of puberty onset is associated with various anthropometric measures, and to investigate the critical time period of the BFP transition before and after puberty. METHODS: The Taiwan Pubertal Longitudinal Study (TPLS) has a multicenter, population-based prospective cohort and was established in July 2018 at 4 pediatric departments. We included girls aged 6-14 years and boys aged 9-17 years evaluated as having puberty onset and excluded those with precocious puberty diagnosis. The anthropometric measures were collected every 3 months. The main outcome was age at puberty onset. Data were analyzed between July 2018 and September 2020. RESULTS: For 153 girls and 83 boys, BFP was significantly related to puberty onset for girls. Longitudinal analysis revealed that BFP in the girls was reduced to less than 18% 6 months before puberty and rapidly increased by 2.85% over 3 months, then exceeding 20% before puberty onset. After puberty onset, BFP was no longer lower than 22%. CONCLUSIONS: BFP is an essential predictor of age at puberty onset. BFP first decreases and then begins to increase 3-6 months before puberty in girls. Parents and schools could monitor the BFP of prepubescent girls every 6 months to predict puberty onset.

Hallermann-Streiff syndrome associated with small cerebellum, endocrinopathy and increased chromosomal breakage.

UNLABELLED: Hallermann-Streiff syndrome (HSS) is a rare clinic entity of unknown aetiology. Further clinical and metabolic-genetic evaluations are indicated. A 2-mo-old female baby presented with ocular abnormalities and severe failure to thrive since birth. The clinical features were compatible with the diagnosis of HSS. Further imaging, metabolic and cytogenetic examinations were performed. Features characteristic of HSS were dyscephaly with mandibular and nasal cartilage hypoplasia, microphthalmia, bilateral cataracts with congenital glaucoma, natal teeth and proportionate dwarfism. Rare anomalies such as choanal atresia and small cerebellum, very low insulin-like growth factor I level, hypothyroidism, generalized organic aciduria were also noticed. An increased chromosomal breakage rate is suggestive of the existence of some DNA repair defects in HSS patients. CONCLUSION: The associated anomalies in this patient may broaden the clinical spectrum of HSS. Underlying conditions of organic aciduria, growth factor deficiency and impaired DNA repair are likely to contribute to the progeria-like facies, congenital cataracts and growth failure.

Can physicians' admission evaluation of patients' status help to identify patients requiring social work interventions?

OBJECTIVE: To evaluate the utility of these physicians' initial clinical assessments in identifying patients admitted from their homes who subsequently require social work intervention for discharge planning. DESIGN: Retrospective chart review of discharge disposition correlated with a prospective physician evaluation of patients. SETTING: An academic medical center. PARTICIPANTS: Consecutive patients, (2,571) men and women, admitted at the New York Hospital between July 1, 1997 and October 31, 1997. MEASUREMENT: Prospective evaluation of clinical status, functional status, illness severity and stability by physicians within 24 hours of admission. RESULTS: Older patients, sicker and less functional, have higher needs for social work intervention (P < 0.001). New nursing home placement patients were older and had worse function (P < 0.001). Total cost of hospitalization and length of stay were predicted by discharge disposition. CONCLUSION: Early discharge intervention has often been targeted as a potential mechanism to lower hospitalization cost and reduce length of stay. Age and physician evaluation of functional status at admission may provide early identification of those who require social work assistance.

Alstrom syndrome with hepatic dysfunction: report of one case.

Alstrom syndrome is a rare autosomal recessive disorder associated with early childhood retinopathy, progressive sensorineural hearing loss, truncal obesity, and acanthosis nigricans. We report a 10-year-old boy with Alstrom syndrome presenting with general malaise and abnormal liver function for 1 year. In addition to the above mentioned features, he also had hyperglycemia and hyperinsulinemia. The mechanism responsible for the persistent elevation of liver enzymes could not be identified. To the best of our knowledge, this is the first-reported case of Alstrom syndrome with hepatic dysfunction in Taiwan.

Renal malformations in children with Turner's syndrome.

Between 1988 and 1999, renal sonography and intravenous urography were performed to detect renal malformations in 54 patients with Turner's syndrome (TS). The mean age of these patients at diagnosis of TS was 9.2 +/- 4.6 years. Renal malformations were detected in 21 patients by intravenous urography and there was no significant difference in the frequency of renal malformations among different karyotype groups. Horseshoe kidney was the most common renal malformation, followed by duplex kidney. Fifteen of 21 renal malformations were not detected by renal sonography. We conclude that these TS patients had a high frequency of renal malformations, and that the detection rate of horseshoe kidney and duplex kidney by renal sonography was not satisfactory. Although renal sonography alone can be used to detect more severe renal malformations that may need further management, it may underestimate the frequency of renal malformation in children with TS.

Congenital contractural arachnodactyly (Beals syndrome).

Congenital contractural arachnodactyly (CCA, Beals syndrome) is an autosomal dominant disorder that is phenotypically similar to Marfan syndrome. CCA is characterized by arachnodactyly, dolichostenomelia, scoliosis, multiple congenital contractures and abnormalities of the external ears. We report here 28 patients with CCA, in whom a wide range of phenotypic expression is observed. These individuals usually have abnormally formed ears, limited extension of fingers and toes, arachnodactyly, clinodactyly, delay of developmental milestones and psychomotor retardation. Limited extensions of elbows, knees and hips are not constant features. With time, those affected individuals experience spontaneous improvement of their contractures but the kyphosis, unlike the joint contractures, tends to be progressive. No ocular problems were found in all patients, but congenital heart defects were detected in 32.2% of them. Atrial septal defect and ventricular septal defect are common components in our patients. Within the only one family with two multiply affected siblings there is little phenotypic variation between the patients.

Growth of bifidobacteria in soymilk and their survival in the fermented soymilk drink during storage.

Growth of Bifidobacterium infantis CCRC 14633 and B. longum B6, in soymilk was investigated in the present study. It was found that soymilk could support the growth of both organisms tested. B. infantis grew better than B. longum in soymilk. Supplementation of bifitose (isomaltooligosccharie), glucose, lactose or galactose to soymilk increased the growth of B. infantis and B. longum as determined after 48 h of fermentation. On the other hand, addition of yeast extract, peptone, tryptone, casitone or N-Z-Case plus to soymilk enabled B. infantis to reach its maximum population in a shorter cultivation time of 24 h. Acid production by B. longum and B. infantis in soymilk was mainly non-growth associated, while in the yeast extract-supplemented soymilk, acid produced by B. infantis was found to be growth-associated. Populations of B. longum reduced more than did B. infantis in the prepared fermented soymilk drink during storage period. Viable population of both test organisms reduced less in the fermented drink held at 5 degrees C than at 25 degrees C. After a 10-day storage at 5 degrees C, viable B. infantis and B. longum reduced by 0.44 and 3.18 log CFU/ml, respectively, in the fermented drink. Addition of sucrose to the fermented drink resulted in an increased reduction of viable bifidobacteria during the storage period. This phenomenon was most prominent with B. infantis in the fermented drink held at 25 degrees C.

Metabolic disorders mimicking Reye's syndrome.

BACKGROUND: Several metabolic disorders such as encephalopathy and hepatic dysfunction have been described as Reye's-like syndrome because they present with similar clinical manifestations that mimic Reye's syndrome. We performed a retrospective study to explore the underlying metabolic etiologies of Reye's-like syndrome in patients treated at National Taiwan University Hospital. METHODS: From January 1991 to June 1998, 19 children with a syndrome fitting the Reye's-like syndrome description were identified for study. Urine organic acid analysis, plasma amino acid analysis, liver pathology, and skin fibroblast enzyme assays were studied during the acute stage of illness. RESULTS: The etiologies of patients' syndromes included urea cycle disorders (n = 7), glycogen storage disease type Ia (4), primary carnitine deficiency (2), hereditary fructose intolerance (1), methylmalonic acidemia (2), and 3-hydroxy-3-methylglutaric acidemia (1). Fatty acid oxidation defects were suspected in the remaining two cases. CONCLUSIONS: A significant number of patients who present with Reye's-like syndrome have an underlying inherited metabolic disorder. In patients with Reye's-like syndrome, an accurate diagnosis is essential to ensure normal growth and development and to prevent recurrence of the condition.

Autoimmune thyroiditis in children with Turner syndrome.

PURPOSE: To determine the frequency of autoimmune thyroiditis (AIT) and the risk of development of thyroid dysfunction in children with Turner syndrome. METHODS: From 1988 to 1998, 77 children with Turner syndrome were prospectively followed up at National Taiwan University Hospital. The mean (+/- standard deviation) age of these patients was 10.0 +/- 4.7 years at diagnosis of Turner syndrome and 17.4 +/- 5.2 years at the end of the present study. Antithyroglobulin antibody, antimicrosomal antibody, and thyroid function were assessed once every 6 months during the study period. RESULTS: Thyroid autoantibodies were detected in 21 of the 77 (27%) patients. The mean age at the detection of thyroid autoantibodies was 12.2 +/- 5.2 years. The cumulative frequency of AIT at 10 years after diagnosis of Turner syndrome was 36%. Both patients with a ring X chromosome developed AIT. Three of the 21 patients (14%) with AIT developed thyroid dysfunction. One patient developed hypothyroidism at the time of the detection of thyroid autoantibody. Two other patients were noted to have hyperthyroidism 0.5 and 2.5 years, after the detection of thyroid autoantibodies, respectively. CONCLUSIONS: Our data demonstrated a high frequency of AIT in Taiwanese children with Turner syndrome. Some of these patients later developed thyroid dysfunction. Hence, this study has confirmed that regular follow-up assessment of thyroid autoantibody and thyroid function in Taiwanese children with Turner syndrome regardless of their age is necessary for timely diagnosis of thyroid dysfunction and administration of appropriate treatment.

Oral-facial-digital syndrome with Y-shaped fourth metacarpals and endocardial cushion defect.

We report on a boy with pseudo-cleft of the upper lip, cleft palate, bifid uvula, lobulated tongue, hypoplasia of the epiglottis, both preaxial and central polydactyly of the hands (Y-shaped fourth metacarpals), bilateral preaxial polydactyly of the feet, postaxial polydactyly of the left foot, hearing impairment, and congenital heart disease with endocardial cushion defect. These clinical manifestations resembled oral-facial-digital syndrome type II (OFDS II, Mohr syndrome) or type VI (Váradi syndrome), associated with an atrioventricular canal. Clinical variability of OFDS II has been observed repeatedly. To the best of our knowledge, this is the first reported case of OFDS II with Y-shaped fourth metacarpals. In addition to Y-shaped fourth metacarpals, Mohr syndrome plus atrioventricular canal and hypoplasia of the epiglottis may represent an additional subgroup of OFDS.

Detection of KAL-1 gene deletion with fluorescence in situ hybridization.

We investigated the molecular cytogenetic status of two unrelated boys and their family members because they had features consistent with Kallmann syndrome but normal karyotypes. The first patient was a 6-year-old boy who suffered from ichthyosis, bilateral cryptorchidism, hyposmia, and neurologic disorders including mirror movements of the hands and nystagmus. Mild to moderate mental retardation was also noted in this boy, his mother, and maternal grandmother. Fluorescence in situ hybridization (FISH) study using probes for Kallmann (KAL), steroid sulfatase, and ocular albinism type 1 all showed nullisomy on Xp22.3 in this patient, and hemizygosity in his older sister, mother, and maternal grandmother. The second patient was a 1-year-old boy who had micropenis, cryptorchidism, and hypoplastic scrotum since birth. Family study disclosed a 28-year-old maternal uncle with cryptorchidism, lack of secondary sexual characteristics, and anosmia. FISH showed only the KAL gene deletion. Polymerase chain reaction analysis also showed an absence of the KAL-1 sequence. FISH is a useful tool for the detection of KAL-1 deletion in people with normal karyotypes but features consistent with Kallmann syndrome.

Study of human Y chromosome polymorphism in Taiwan.

The Y chromosome is one of the human chromosomes carrying significant amount of constitutive heterochromatin. To investigate the prevalence of Y chromosome polymorphism and its clinical significance in Taiwan, we analyzed the Y chromosome among 6,286 unrelated males by G-banding and, if necessary, fluorescence in situ hybridization studies. The prevalence of the Y chromosome variants were: large Y (Yq+) 3.6%, pericentric inverted Y [inv(Y)] 0.27%, and small Y (Yq-) 0.59%, respectively. More than 99% of those variants were from their biological fathers. The incidence of the Y polymorphisms was similar in three groups: children with mental retardation, other chromosomal aberrations or multiple congenital anomalies, and normal controls. The Yq12 heterochromatin region may contribute to the variation in Y chromosome length. The prevalence of inv(Y) and Yq+ was higher than those in the white population. Our results conclude that there are no indications that Yq+, inv(Y) and Yq- are connected with any deviations in intelligence or with an increased risk of physical malformations or other chromosomal disorders, which is of great help for genetic counseling.

Corneal opacity and congenital glaucoma associated with massive heparan sulfaturia: report of one case.

A four month-old male infant was noted to have had severe corneal opacity since birth. Buphthalmos, increased intraocular pressure and corneal opacity with neovascularization were noted during physical examination. There was neither dysmorphic face nor hirsutism and the liver and spleen were impalpable. In addition, hypotonia, poor head control, and absence of Moro and grasping reflexes were also noted. There was no evidence of congenital infection by TORCH study. Tests of both urine and plasma amino acids were within normal limits. However, excessive urinary excretion of heparan sulfate was detected by thin-layer chromatography. Corneal transplantation was performed at 6 months old. Histopathological examination of the corneal button showed homogeneous thickening of Bowmen's membrane and intracytoplasmic pinkish substances in corneal stroma. The Alcian blue stain was positive, which was consistent with mucopolysaccharidosis of cornea. The manifestation of this case may be a clinical variant of Sanfilippo's syndrome (Mucopolysaccharidosis type III).

Protective effects of sodium tanshinone IIA sulphonate against adriamycin-induced lipid peroxidation in mice hearts in vivo and in vitro.

Protective effects of sodium tanshinone IIA sulphonate against adriamycin-induced lipid peroxidation were investigated. Data showed that treatment with sodium tanshinone IIA sulphonate could prevent mice from decrease in body weight caused by adriamycin. It was found that myocardial lipid peroxidation in sodium tanshinone IIA sulphonate-treated mice was lower compared with that in adriamycin-treated ones. The activities of some endogenous antioxidant enzymes, such as superoxide dismutase, glutathione peroxidase and catalase, were higher in the sodium tanshinone IIA sulphonate group than that in the adriamycin group. In vitro experiments showed that sodium tanshinone IIA sulphonate could inhibit adriamycin-induced mitochondrial lipid peroxidation and swelling. Sodium tanshinone IIA sulphonate could scavenge adriamycin semiquinone free radical in heart homogenate dose-dependently. Thus, protective effects of sodium tanshinone IIA sulphonate may not only be related to its antioxidant activity but also to its regulation of antioxidant enzyme activities in the heart.

An epidemiological and aetiological study of children with intellectual disability in Taiwan.

A large-scale cytogenetic study of the causes of intellectual disability (ID) in children from special schools and institutions was made in Taiwan between 1991 and 1996. The screening methods and the identification of subjects with ID consisted of both clinical evaluation (i.e. photographs, questionnaires on family, pre-, peri- and postnatal history, and hospital records, including IQ) and further laboratory studies for diagnosis (i.e. standard chromosome analysis, and if indicated, high-resolution banding, cytogenetic fragile-X study or molecular techniques). A total of 11,892 patients were enrolled in this study. After excluding the acquired causes of ID, such as infections and the sequelae of brain insults, or the well-known single-gene disorders and other multifactorial diseases, 4372 (36.8%) cumulative cases were recruited for karyotyping studies according to their phenotypes and medical records. Abnormal karyotypes were noted in 1889 children (43.2% of all selected children). Thus, the overall incidence of chromosomal aberrations in subjects with ID was estimated as 15.9%. Down's syndrome, the most common cause of ID, accounted for 82.4% of all patients with abnormal karyotypes. The causes of ID were considered to be prenatal in 55.2% (n = 6564) of cases, perinatal in 9.5% (n = 1130), postnatal in 3.3% (n = 392) and unknown in 32.0% (n = 3805) of cases. Two large groups were classified: (1) serious ID (37%), including profound, severe and moderate categories; and (2) mild ID (63%). The causes (pre-, peri- and postnatal, and unknown) in these two populations were: 70%, 10.5%, 5.4% and 14.1%, and 46.5%, 8.9%, 2.1% and 42.5%, respectively. Genetic causes accounted for 38.5% (n = 4578) of all cases in this study, including 1557 with Down's syndrome, 233 with fragile-X syndrome, 199 with other various chromosomal abnormalities (i.e. unbalanced translocation, supernumerary markers and structural rearrangements), 238 with a defined or presumed single-gene defect, and 98 with a recognized contiguous gene syndrome (Prader-Willi, 56; Angelman, 34; Williams, 5; and Kallmann, 3); 2120 cases had familial ID. Multiple anomalies of undefined pattern, but without chromosomal aberration, infantile autism, ID of normal phenotype or family history, were of the other categories. Patients with a single-gene disorder or chromosomal aberration, especially those with unbalanced translocated or rearranged chromosomes, had genetic counselling and family studies. Pre-screening with photographs and questionnaires may give a better costbenefit than blind mass cytogenetic studies for each individual with ID.