Pseudohypoparathyroidism type 1a and the GNAS p.R231H mutation: Somatic mosaicism in a mother with two affected sons

Pseudohypoparathyrodism (PHP) is a disorder caused by mutations in the guanine nucleotide-binding α-subunit (GNAS). We sought to determine the genetic origin of PHP1a in one affected family. We identified the previously reported Gsα R231H mutation in family members affected with PHP1a. DNA analysis found that the two clinically affected sons are heterozygous for the mutation. The sons have PHP1a, manifesting obesity, intellectual disability, hypogonadism, hypothyroidism and elevated PTH levels. Initial DNA sequencing did not detect the mutation in either parent. However, their mother displayed some features of PHP, including elevated PTH levels and asymmetrical metacarpal shortening. Using molecular cloning, we detected the mutation at low levels in the mother's leukocyte DNA, consistent with somatic mosaicism and her mildly affected status. Thus, we have identified additional cases of PHP1a caused by the Gsα R231H mutation. In this family, the mother has a milder phenotype due in part to somatic mosaicism, whereas the two affected sons have full PHP1a. Though somatic mosaicism for activating GNAS mutations is known to occur in McCune-Albright syndrome, this is the first report confirming somatic mosaicism for a hypofunctioning GNAS mutation in a PHP kindred.     

Jab1 expression is associated with TGF-β1 signaling in chronic rhinosinusitis and nasal polyposis

Jab1, which is a fifth component of COP9 signalosome, plays an essential role in cell growth and proliferation. Jab1 is also shown to regulate transforming growth factor-beta (TGF-β) signaling in carcinoma cells. The aim of the present study was to investigate the expression and the correlation of Jab1 and TGF-β1 in chronic rhinosinusitis and nasal polyposis. Here, we show the elevated expression of Jab1 and TGF-β1 in diseased mucosa without nasal polyps and a correlation between Jab1 and TGF-β1 expression. Forty-six samples (26 patients with nasal polyps, 10 patients with chronic rhinosinusitis and 10 control subjects) were included to this study. Immunohistochemistry and Western blotting were performed for the assessment of Jab1 and TGF-β1 localization and the expression of proteins. Double staining of both proteins showed that Jab1 and TGF-β1 were colocalized in the epithelium, inflammatory cells and the vascular endothelium of nasal mucosa. There was a significant increase in the expression of TGF-β1 and Jab1 in patients without nasal polyps and a significant decrease in patients with nasal polyps compared to controls. Moreover, correlation was detected between the expression of Jab1 and TGF-β1 in chronic rhinosinusitis and nasal polyposis. Our results demonstrate that chronic rhinosinusitis is characterized by elevated expression of Jab1 and TGF-β1 compared to nasal polyposis and Jab1 may play a vital role in the pathogenesis of both chronic rhinosinusitis and nasal polyposis.     

Altered chromatin landscape in circulating T follicular helper and regulatory cells following grass pollen subcutaneous and sublingual immunotherapy

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Paraoxonase and arylesterase activities in children with iron deficiency anemia and vitamin B12 deficiency anemia

Paraoxonase-1 is an esterase enzyme and it has 3 types of activity, namely paraoxonase, arylesterase, and diazoxonase. It has been reported that paraoxonase-1 deficiency is related to increased susceptibility to development of atherosclerosis and cardiovascular disease. The aim of this study was to investigate serum paraoxonase and arylesterase activities in children with iron deficiency anemia and vitamin B(12) deficiency anemia. Thirty children with iron deficiency anemia, 30 children with vitamin B(12) deficiency anemia, and 40 healthy children aged 6 months to 6 years were enrolled in this study. Serum paraoxonase and arylesterase activities were measured with a spectrophotometer by using commercially available kits. Mean paraoxonase and arylesterase activities in vitamin B(12) deficiency anemia group (103 ± 73 and 102 ± 41 U/L, respectively) were significantly lower than mean activities of control group (188 ± 100 and 147 ± 34 U/L, respectively; P < .001 for both) and iron deficiency anemia group (165 ± 103 and 138 ± 39 U/L, respectively; P < .05, P < .001), whereas there were no significant differences between iron deficiency anemia and control groups (P > .05). Paraoxonase and arylesterase activities significantly increased after treatment with vitamin B(12) in vitamin B(12) deficiency anemia; however, there were no significant changes in the activities of these enzymes after iron treatment in iron deficiency anemia group. Important correlations were found between vitamin B(12) levels and both paraoxonase and arylesterase activities (r = .367, P < .001; r = .445, P < .001). Our results suggest that vitamin B(12) deficiency anemia causes important reductions in paraoxonase and arylesterase activities, and after vitamin B(12) therapy the activities of these enzymes returned to near-normal levels.     

Prevalence of Nocturnal Enuresis and Related Factors in Children Aged 5-13 in Istanbul

Objective

Enuresis is a health problem frequently encountered in childhood. This study was carried out in two socio-demographically different districts of the province of Istanbul, for the purpose of determining the relationship between the prevalence of primary nocturnal enuresis and certain demographic characteristics.

Methods

The study design is a cross-sectional carried out on 420 children (5 to 13 yr old) through random sampling. The research was conducted at two health centers in two different districts in the province of Istanbul. Data was collected with a questionnaire created by the researchers. Diagnosis of enuresis considered nocturnal voiding twice a week for at least three consecutive months.

Findings

Enuresis was a complaint expressed by 16.2% of the cases in the study group; 8.3% reported intermittent bedwetting. The data collected in the two districts pointed to a significant difference in terms of the frequency of enuresis in favor of the district where socio-demographic features were inferior (P<0.005). When family histories were explored in cases of children with enuresis, it was found that the mothers of 76.2% had the problem of enuresis while 14.9% had enuretic fathers. Thus statistically, the presence of enuresis in the family history was seen to have had a markedly significant impact on the occurrence of enuresis in the child (P<0.001).

Conclusion

It was concluded that familial predisposition to the condition constituted a more significant risk factor for enuresis compared to socio-demographic or economic characteristics.     

Absence of frontal sinus in Turkish individuals

The frontal sinus has been used for personal identification since the early part of the 20th century as a result of its tremendous interindividual variation. The frontal sinus is present in approximately 90% of adults. However, some populations have a higher proportion of people without a frontal sinus. This study investigated the frequency of the absence of frontal sinuses in Turkish individuals. The present study was performed retrospectively on the CT scans of the paranasal sinuses in the axial and coronal planes from a series of 1200 cases. A bilateral absence and a unilateral absence of sinuses were found in 3.8% and 4.8% of cases, respectively. The clinical significance of the frontal sinuses and their absence are also discussed.     

Evaluation of thiol-disulphide homeostasis in radiation workers

Purpose: To evaluate thiol-disulphide homeostasis – a novel, easily calculated, readily available, and relatively cheap oxidative stress marker – in radiation workers and compare the results with healthy controls.

Materials and methods: A total of 108 participants were enrolled in the study including 63 hospital workers occupationally exposed to ionizing radiation in the units of interventional radiology, interventional cardiology and nuclear medicine. A control group consisted of 45 individuals staff in the same hospital. Serum thiol-disulphide homeostasis measurement was investigated via the spectrophotometric method newly described by Erel and Ne?elio?lu.

Results: The mean serum native thiol levels of radiation workers (528.96?±?86.42?μmol/l) was significantly lower than control subjects (561.05?±?104.83?μmol/l) (p?=?.045). The mean serum total thiol levels of radiation workers (547.70?±?91.50?μmol/l) was lower than control subjects (580.36?±?112.24?μmol/l). Nevertheless, there was no significant difference between total thiol of exposed workers and controls.

Conclusions: The results show that long-term low dose ionizing radiation may lead to oxidative stress and have side-effects in antioxidant thiol groups. We may suggest supporting radiation workers by safe antioxidant nutritional formulations and following up via both physical dosimetry and biodosimetric methods.     

Motor neuron disease associated with multiple myeloma

The association between Amyotrophic Lateral Sclerosis or other Motor Neuron Diseases (MNDs) with Lymphoproliferative Disorders (LPDs) and plasma cell neoplasias (such as Hodgkin's or non-Hodgkin's lymphoma, Waldenstrom's macroglobulinemia, multiple myeloma, chronic lymphocytic leukemia) has been described. It is not clear whether LPDs play a role in the pathogenesis of MND; however it is possible that patients might have antibodies against motor neurons. An association between motor neuron disease and Multiple myeloma (MM) is rarely reported in the literature. This article reports a case of a 75-year-old male with MM and MND. Interestingly, the patient was in complete remission for MM when he was diagnosed as MND and he died due to progressive MND.