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.     

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.     

Latent autoimmune diabetes mellitus in children (LADC) with autoimmune thyroiditis and Celiac disease

Latent autoimmune diabetes mellitus in adults (LADA) is characterized by clinical presentation as type 2 diabetes mellitus after 25 years of age, initial control achieved with oral hypoglycemic agents for at least 6 months, presence of autoantibodies and some immunogenetic features of type 1 diabetes mellitus. An 8.3 year-old girl was referred to our pediatric endocrinology department because of incidental glucosuria. She did not complain of polyuria, polydipsia, or weight loss. Her body mass index (BMI) was at the 80th percentile. Fasting glucose was 126 mg/dl, and OGTT glucose level at 120 min was 307 mg/dl. Although C-peptide levels were normal, her first phase insulin response (FIR) was lower than the 1st percentile. Anti-insulin antibody (AIA), islet cell antibody (ICA), and anti-glutamic acid decarboxylase (antiGAD) were negative. According to the clinical and laboratory findings, she was diagnosed as having type 2 diabetes mellitus. She was started with oral anti-diabetic treatment for a period of 1 year. Insulin had to be initiated for worsening of HbA1c levels. In the fourth year of follow-up, she was admitted to our hospital with diabetic ketoacidosis although she was on an intensive insulin regimen. At this time, C-peptide levels were low, antiGAD and AIA were positive with HLA DR3/DQ2 haplotype. In addition, her thyroid peroxidase antibody and endomysium antibody were found to be high at follow-up. Small intestinal biopsy revealed celiac disease. This patient may represent the first case of latent autoimmune diabetes mellitus in children (LADC) with autoimmune thyroiditis and celiac disease.     

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.     

Injuries of the vulva and vagina in childhood

Injuries of the vulva and vagina are relatively rare in children. Over a seven-year period, we treated 45 girls. The most common etiologic factor in our study group was trauma. While 28 had only vulvar lesions, the rest had injuries of both the vulva and vagina. Thirty-two children were treated surgically for only vulvar and vaginal injuries. However, additional organ treatment was mandatory for 13 children.     

Yasargil-Phynox aneurysm clip: a simple and reliable device for making a peripheral nerve injury

A great number of devices were used to make a peripheral nerve injury. In the scientific literature, experimental crush injuries have been usually created using forceps or hemostatic forceps, neither of which allows quantitative or standard application of compression. Therefore, we used a Yasargil-Phynox aneurysm clip to make a reliable and standardized peripheral nerve injury. The advantages and disadvantages of this clip were discussed. In particular, we think that standardization of the compression is necessary to compare interlaboratory results.     

Criteria for judging the improvement in subclinical rheumatic valvitis

Recent technical improvements in cross-sectional echocardiography have made it possible to detect even mild organic regurgitation of the mitral and aortic valves in patients with acute rheumatic fever. To determine the prevalence and prognosis of subclinical valvitis, we have analyzed 104 patients with acute rheumatic fever referred to our institution. Of 53 patients who had no murmur, 22 of them with polyarthritis, 29 with chorea, and 2 with polyarthritis and chorea, 23 (43.4%) had subclinical valvitis. Isolated mitral regurgitation was the most common valvar lesion, seen in 82.6% of the patients. Isolated aortic regurgitation was detected in 4.4% of the cases, and combined mitral and aortic regurgitation in the remaining 13%. During follow-up, the degree of mitral regurgitation improved in 59.1%, decreased in 18.2%, and increased or remained unchanged in 22.7% according to the length of colour jet. According to criterions of velocity, mitral regurgitation improved in 86.4% of the patients, and increased or unchanged in the remaining 13.6%. Mitral regurgitation disappeared completely in 6 of the patients (27.3%) as judged according to both the length of colour jet and the velocity of regurgitation. Aortic regurgitation improved in all the patients with this problem, disappearing completely in two of the four. Based on this experience, we suggest that not only the disappearance of regurgitation, but also improvements in the echocardiographic diagnostic criterions of regurgitation, such as the length of the colour jet less than 1 cm, or velocity less than 2.5 m/s, or indicative of regurgitation that is either intermittent or of short duration, should also be considered as criterions indicating improvement in valvar regurgitation in patients with subclinical rheumatic valvitis.