Vitamin D Receptor (VDR) Gene Polymorphisms (<Emphasis Type="Italic">Fok</Emphasis>I, <Emphasis Type="Italic">Bsm</Emphasis>I) and their Relation to Vitamin D Status in Pediatrics βeta Thalassemia Major

Vitamin D is critical for calcium, phosphate homeostasis and for mineralization of the skeleton, especially during periods of rapid growth. Vitamin D Deficiency leads to rickets (in children) and osteomalacia (in adults). Expression and activation of the vitamin D receptor (VDR) are necessary for the effects of vitamin D, in which several single nucleotide polymorphisms have been identified especially (FokI, BsmI). In this study serum 25 (OH) vitamin D3 levels were estimated by Enzyme Linked Immunosorbent Assay [ELISA], VDR (FokI, BsmI) gene polymorphisms were analyzed by polymerase chain reaction-restriction fragment length polymorphism assay [PCR–RFLP].Serum levels of calcium, phosphorus, alkaline phosphatase and ferritin were determined in 50 Pediatrics beta thalassemia major patients and 60 controls. Patients had significantly lower serum calcium (p < 0.001) lower serum vitamin D3 (p < 0.001) with elevated levels of phosphorus (p < 0.001) and alkaline phosphatase than controls (p = 0.04). Of the patients studied, 60 % had vitamin D deficiency (<20 ng/ml), 20 % had vitamin D insufficiency (21–30 ng/ml) and 20 % had sufficient vitamin D status (>30 ng/ml). Patients harboring mutant (Ff,ff) and wild (BB) genotypes were associated with lower serum calcium (p = 0.08, 0.02) respectively, lower vitamin D3 levels (p < 0.001, 0.01) respectively. They were also suffering from more bony complications although the difference was not statistically significant (p > 0.05). In conclusion, these results suggest that the VDR (FokI, BsmI) gene polymorphisms influence vitamin D status, (Ff,ff), BB genotypes had lower vitamin D levels, so they might influence risk of development of bone diseases in beta thalassemia major.     

Race- and sex-associated differences in rate-adjusted QT,QTpeak, ST elevation and other regional measures of repolarization: The Atherosclerosis Risk in Communities (ARIC) Study

Background

Data are limited about race-and sex-associated differences in prognostically important ECG measures of regional repolarization.

Methods and results

The normal reference group from the Atherosclerosis Risk in Communities (ARIC) study included 8,676 white and African-American men and women aged 40–65 years. Exclusion criteria included cardiovascular disease, hypertension, diabetes and major ECG abnormalities. Notable sex differences (p < 0.001) were observed in the upper 98% limits for rate-adjusted QTend (QT_ea) which was 435 ms in white and African-American men and 445 ms in white and African-American women, and for left ventricular epicardial repolarization time (RT_epi) which was 345 ms in white and African-American men and 465 ms in white and African-American women. These sex differences reflect earlier onset and end of repolarization in men than in women. Upper normal limits for STJ amplitude in V2–V3 were 100 μV in white and African-American women, 150 μV in white men and 200 μV in African-American men (p < 0.001 for sex differences), and for other chest leads, aVL and aVF 50 μV in white women, 100 μV in African-American women, 100 μV in white men and 150 μV in African-American men (p < 0.001 for sex and race differences).

Conclusions

Shorter QT_ea and RT_epi in men than in women reflect earlier onset and end of repolarization in men. STJ amplitudes in African-American men were higher than in other subgroups by race and sex. These sex and race differences need to be considered in clinical and epidemiological applications of normal standards.     

Floating thumb with double dislocation of carpometacarpal and metacarpo-phalangeal joints

INTRODUCTION

Double dislocations of carpometacarpal and metacarpo-phanlageal joints are rare. We report an unusual case of simultaneous dislocation of both CMC and MCP joints in the thumb.

PRESENTATION OF CASE

A 31 year old male was admitted following a road traffic accident. He was complaining of pain and deformity of right thumb. The X-ray examination revealed simultaneous dislocation of both CMC and MCP joints. He underwent closed manipulative reduction and percutaneous K wire fixation. The wires were removed after six weeks. After a course of physiotherapy he regained full range of pain free movements.

DISCUSSION

The incidence of simultaneous dislocation of both CMC and MCP joints in thumb are associated with high energy injuries. The options of treatment are conservative with cast immobilisation and serial X-rays or operative including closed manipulative reduction and K wire fixation or open reduction and internal fixation.

CONCLUSION

The option of treating this rare injury with closed manipulative reduction and percutaneous K wiring gives excellent and predictable results.     

Morphological and Histochemical Description of Quail Feather Development

The current study investigated the macroscopic and microscopic differences between pennaceous and plumulaceous feathers. The morphology of the barbules distinguished pennaceous and plumulaceous feathers, particularly the shape of barbules during their development. In pennaceous feathers, the initial barbules were large and elongated or pyriform in shape, while plumulaceous feathers had small, thin, elongated initial barbules. The spinous barbules were characteristic of pennaceous feathers. The histochemical reactivity of both feather types for Mallory trichrome, orange G, and acridine orange, safranin O, PAS, and methylene blue was determined. Keratin was detected by Mallory trichrome, orange G, and acridine orange. In conclusion, the histochemical properties of pennaceous and plumulaceous feathers of quail, particularly the distribution and nature of keratin during development, should be considered in future studies. The unique morphological features of pennaceous and plumulaceous feathers could be used as a guide for phylogenetic identification. Anat Rec, 2019. © 2019 American Association for Anatomy Anat Rec, 303:1865–1883, 2020. © 2019 American Association for Anatomy     

Antifungal and Antihepatotoxic Effects of Sepia Ink Extract Against Oxidative Stress as a Risk Factor of Invasive Pulmonary Aspergillosis in Neutropenic Mice

Background

There is a great need for novel strategies to overcome the high mortality associated with invasive pulmonary aspergillosis (IPA) in immunocompromised patients. To evaluate the antifungal and antihepatotoxic potentials of Sepia ink extract, its effect on liver oxidative stress levels was analyzed against IPA in neutropenic mice using amphotercin B as a reference drug.

Materials and Methods

Eighty neutropenic infected mice were randomly assigned into four main groups. The 1^st group was treated with saline, neutropenic infected (NI), the 2^nd group was treated with ink extract (200 mg/kg) (IE) and the 3^rd group was treated with amphotericin B (150 mg/kg) (AMB) and 4^th group was treated with IE plus AMB. Treatment was started at 24 h after fungal inoculation (1×10⁹ conidia/ml).

Results

The present study revealed good in vitro and in vivo antifungal activity of IE against A. fumigatus. IE significantly reduced hepatic fungal burden and returns liver function and histology to normal levels. Compared with the untreated infected group, mice in the IE, AMB, and IE+ AMB groups had increased glutathione reduced (GSH) and superoxide dismutase (SOD) and significantly reduced malondialdehyde (MDA) levels at 24 and 72 h after inoculation with A. fumigatus conidia.

Conclusion

It is then concluded that in combination with antifungal therapy (AMB), IE treatment can reduce hepatic fungal burden, alleviate hepatic granulomatous lesions and oxidative stress associated with IPA in neutropenic mice