Expanding the clinical and genetic spectra of NKX6-2-related disorder.

Hypomyelinating leukodystrophies (HLDs) affect the white matter of the central nervous system and manifest as neurological disorders. They are genetically heterogeneous. Very recently, biallelic variants in NKX6-2 have been suggested to cause a novel form of autosomal recessive HLD. Using whole-exome or whole-genome sequencing, we identified the previously reported c.196delC and c.487C>G variants in NKX6-2 in 3 and 2 unrelated index cases, respectively; the novel c.608G>A variant was identified in a sixth patient. All variants were homozygous in affected family members only. Our patients share a primary diagnosis of psychomotor delay, and they show spastic quadriparesis, nystagmus and hypotonia. Seizures and dysmorphic features (observed in 2 families each) represent an addition to the phenotype, while developmental regression (observed in 3 families) appears to be a notable and previously underestimated clinical feature. Our findings extend the clinical and mutational spectra associated with this novel form of HLD. Comparative analysis of our 10 patients and the 15 reported previously did, however, not reveal clear evidence for a genotype-phenotype correlation.

Fetal echogenic cardiac foci: prospective postnatal electrocardiographic follow-up.

OBJECTIVE: To determine postnatal electrocardiographic abnormalities in fetuses with echogenic cardiac foci (ECF) and no congenital heart disease (CHD). STUDY DESIGN: A total of 41 fetuses with ECF and no CHD, were prospectively followed after birth with serial echocardiograms, electrocardiogram (ECG) and 24-h ECG (Holter). The primary outcome was presence of significant abnormalities in the ECG or Holter. RESULT: ECF diagnosed at a mean (s.d.) of 25.6 (4.6) weeks gestation, were located in the ventricles and in the atria in 39 (95.1%), and 2 fetuses (4.9%), respectively. Postnatal follow-up was for 8.1 (4.6) months (range 1 to 24). None of the infants had any clinically significant abnormality in the ECG or Holter. ECF resolved in 10 infants (24.3%) by 24 months of age. There was no difference between infants with resolved or persistent ECF in various ECG or Holter measurements compared. CONCLUSION: Fetuses with ECF and no CHD have no significant postnatal electrocardiographic abnormalities, irrespective of ECF persistence or resolution.

Reproductive biology and implications for management of the painted sweetlips Diagramma pictum in the southern Arabian Gulf.

The reproductive biology of the painted sweetlips Diagramma pictum was determined from 487 individuals collected between January and December 2010 in the southern Arabian Gulf. There was no evidence of sex change and the combination of histological results with the sex composition of the size and age structures indicated a gonochoristic sexual pattern. There were peaks in gonado-somatic indices for females in March and October with spawning occurring during two seasons (April to May and November). The mean size and age at sexual maturity (L(m50) and A(m50) ) were 35·7 cm fork length (L(F) ) and 2·9 years for females and 26·7 cm L(F) and 0·5 years for males. The maximum recorded age (11 years) and small mean size and young age at sexual maturity for males may be a direct result of intensive demersal fishing in the southern Arabian Gulf. There was an exponential increase in the cumulative reproductive potential with size and a linear increase with age for both sexes. The mean L(F) (L(c50) ) at which D. pictum became vulnerable to capture was 33·3 cm, which corresponded to only 3 and 7% of the cumulative reproductive potential of males and females, respectively. Size-specific and age-specific reproductive potential indicated that conventional regulations that equate the mean size at first capture to sexual maturation are unsuitable for the management of D. pictum.

Reproductive biology and implications for management of the spangled emperor Lethrinus nebulosus in the southern Arabian Gulf.

The reproductive biology of the spangled emperor Lethrinus nebulosus in the southern Arabian Gulf was determined from the examination of 781 individuals collected between September 2008 and August 2009. There was no histological evidence of adult sex change, and sex ratios did not differ significantly from unity across all size and age classes. Testes had an ovarian structure and a remnant lumen which was not used for sperm transport; furthermore, residual oocytes were observed in the testes of some immature, resting and developing males. A dramatic change in the sex ratio of the smallest and youngest size and age classes suggested that juvenile female to male sex change occurred between 21·0 cm fork length (L(F)) and 24·0 cm L(F) at 1 year of age. The combination of histological evidence with the sexual composition of the size and age structures suggests a non-functional protogynous hermaphroditic sexual pattern, which is analogous to functional gonochorism. The spawning season was well defined, occurring once a year during March, April and early May. Peaks in spawning occurred after full moons, there was a cessation in spawning activity after new moons and spawning was completed within three lunar cycles. The distribution of males over the entire size and age ranges and the absence of inactive mature females during the spawning season suggested that the population was not constrained by sperm limitation. Size-specific and age-specific reproductive potential indicated that conventional regulations that equate the mean size at first capture to sexual maturation are unsuitable for the management of L. nebulosus. The maximum recorded age (11 years), small mean size and young age at sexual maturation (L(m50) = 26·7 cm L(F), 2·1 years, for females and 19·4 cm L(F), 0·5 years, for males) may be a direct result of intensive demersal fishing in the southern Arabian Gulf.

Reproductive biology and implications for management of the orange-spotted grouper Epinephelus coioides in the southern Arabian Gulf.

The reproductive biology of Epinephelus coioides was determined from the examination of 1455 individuals collected between July 2005 and June 2007 in the southern Arabian Gulf. Histological preparations of gonads indicated that males were either derived from a juvenile phase or the transition of postspawning females, confirming a diandric protogynous sexual pattern. The spawning season was well defined, occurring once a year during April and early May. Peaks in spawning occurred after the full and new moons and was completed within a single lunar cycle. The presence of mature males over the entire size and age range and the absence of inactive mature females during the spawning season suggested that the population was not constrained by sperm limitation. While specimens undergoing sexual transition were only observed in size and age ranges of 335-685 mm total length (L(T)) and 5-6 years, patterns in the proportion of males in size and age classes suggested that sex change occurred at a relatively constant rate after female maturation up to the maximum size (1002 mm L(T)) and age (11 years). Relationships between reproductive output and capacity with size and age indicated that conventional regulations that equate the mean size at first capture to sexual maturation are unsuitable for the management of E. coioides. The maximum age, small size and young age at sexual maturation (L(min)= 320 mm L(T), 2 years, for females and 242 mm L(T), 1 year, for males) conflict with the general pattern for large epinepheline groupers and may be a direct result of the intensive demersal fishery in the southern Arabian Gulf.

Shear bond strength and residual adhesive after orthodontic bracket debonding.

OBJECTIVE: To compare the shear bond strength and determine the area of residual adhesive on teeth after the debonding of brackets bonded with two types of orthodontic adhesives. These were a resin-modified glass ionomer cement (RMGIC; Fuji ORTHO LC, GC Corporation, Tokyo, Japan) and a resin applied as a precoated bracket (APC bracket, 3M Unitek GmbH, Seefeld, Germany). MATERIALS AND METHODS: A total of 60 premolar teeth were randomly divided into two groups, and brackets were bonded according to the manufacturers' instructions. In group 1, the teeth were conditioned using 10% polyacrylic acid, and the brackets were bonded using Fuji Ortho LC in wet condition. In group 2, the teeth were etched using 37% phosphoric acid, and the APC brackets were bonded. Bond strength was measured using a testing instrument (2000S, Lloyds Instruments, Fareham, England) at a crosshead speed of 1 mm/min, and the residual adhesive was quantified using a three-dimensional laser scanning instrument. RESULTS: The Mann-Whitney test showed that the median bond strength of group 1 was significantly lower than that of group 2 (P < .001). A Pearson chi-square test of the Adhesive Remnant Index (ARI) revealed a significant difference among the groups tested. All the adhesives in group 1 failed at the enamel/adhesive interface (100%), whereas group 2 exhibited cohesive failure of the adhesive (90%). CONCLUSIONS: The bond strength values obtained with the RMGIC were above the minimum values suggested in the literature to achieve a clinically effective adhesion in orthodontics.