Pitfalls and Pearls in the Diagnosis of Monilethrix

A 4‐year‐old girl presented with sparse, brittle hair on her entire scalp and keratosis pilaris on the nape of her neck. Subtle microscopic and macroscopic diagnostic features presented a challenge for physicians. Only repeated, optimized light microscopy revealed the diagnosis of monilethrix, a rare genetic hair shaft disorder with a variable phenotypic expression and inheritance pattern. We provide a short overview of methods that maximize the diagnostic yield in a clinical setting and of light microscopy to reach a rapid and accurate diagnosis in difficult cases. We conclude with essential learning points, including a link to assistance with hair microscopy from a tertiary center.     

Prevalence of incidental thyroid cancer and its ultrasonographic features in subcentimeter thyroid nodules of patients with hyperthyroidism

In patients, who undergo surgery for hyperthyroidism, many cases of incidental thyroid cancer (ITC) have been detected. In the literature, there is no study about ITC in subcentimeter nodules in these patients. We performed this study to determine the frequency of ITC in subcentimeter nodules and ultrasonographic features that can predict malignancy in the patients with hyperthyroidism. We retrospectively reviewed our database about 3114 patients, who underwent thyroidectomy in our hospital. Among 869 patients (27.9%), who were operated because of hyperthyroidism, we enrolled 337 patients, who underwent total thyroidectomy and had subcentimeter nodule [59 Graves’ disease (GD) 98 subcentimeter nodule; 278 toxic multinodular goitre (TMNG), 359 subcentimeter nodule], in this study. Twenty-five nodules with ITC and 432 benign nodules have been detected and compared for ultrasonographic (US) features. Incidental thyroid cancer detection ratio was 5.4% [10.2% (10/98) in subcentimeter thyroid nodules in individuals with GD, and 4.1% (15/359) in individuals with TMNG, P = 0.018)]. Significant differences have been observed between the groups in terms of microcalcification in US examination of malign and benign subcentimeter thyroid nodules and the ratio of anterioposterior diameter to transverse diameter (A/T) ≥1 [(OR = 5.172; 95% CI: 1.495–17.886, P = 0.015), and (OR = 5.930; 95% CI: 1.531–22.971, P = 0.007), respectively]. We detected a higher incidence of ITC in subcentimeter thyroid nodules in GD compared to TMNG. US examination of subcentimeter nodules in hyperthyroid individuals has indicated that microcalcification and ratio of A/T ≥1 are the parameters that predict malignancy.     

Evaluation of hearing loss in patients with Graves' disease

Hearing loss has commonly been reported in association with thyroid disorders and during treatment with propylthiouracil. The relationship between hyperthyroidism and the auditory system has not been previously investigated. The aim of this cross-sectional, case-control study was to investigate hearing loss in patients with Graves' disease (GD). The study population consisted of patients with newly diagnosed GD and healthy controls. Pure tone audiometry at frequencies of 250, 500, 1000, 2000, 4000 and 8000 Hz, along with immittance measures including tympanometry and acoustic reflex tests, were performed in all participants. Twenty-two GD patients and 22 healthy controls consented to inclusion in the study. The differences between groups with regards to age and gender distribution were statistically insignificant (P = 0.567 and P = 0.757, respectively). The hearing thresholds of right and left ears were also similar in both groups (P > 0.05). When single-ear evaluations were taken into account (total of 44 ears for both groups), hearing thresholds in the GD group were significantly higher than healthy controls at all frequencies (P < 0.05). Following testing at the designated frequencies, the only significant effect of thyrotoxicosis was observed with frequencies of 4000 and 8000 Hz. The odds ratio for having hearing loss at a frequency of 8000 HZ associated with GD was 14.97 (95% confidence interval 4.03-55.64). In patients with GD, right and left pure tone audiometric findings at a frequency of 8000 Hz correlated positively with FT3, FT4 and negatively with TSH. Our results are highly suggestive of a decrease in hearing ability in patients with GD, particularly at high frequencies. Further studies are needed to help elucidate the mechanisms behind hearing loss which develops in association with GD.     

Complications of endoscopic surgery of the pituitary adenomas: analysis of 570 patients and review of the literature

Endoscopic transsphenoidal surgery is emerging as a minimally invasive and maximally effective procedure for pituitary adenomas. In this report we analyzed the complications in 624 procedures of endonasal transsphenoidal endoscopic surgery in the treatment of 570 patients with pituitary adenomas. The leading author (MB) operated pituitary adenomas via pure endoscopic endonasal transsphenoidal surgery between January 2006 and August 2011 at the Hacettepe University, Department of Neurosurgery in Ankara. Complications were assessed in 624 surgical procedures under five groups; rhinological, CSF leaks, infection, vascular and endocrinologic complications. We observed a total of 76 complications (12.1%). Rhinological complications occurred in 8 patients (1.3%): 4 epistaxis (0.6%) and 4 hyposmia (0.6%). Postoperative CSF leaks occurred in 8 patients (1.3%), and infectious complications occurred in 8 patients: 3 cases of sphenoidal sinusitis (0.4%), 5 cases of meningitis (0.8%). Only 1 case of internal carotid aneurysm rupture during the opening of sellar floor (0.16%) was observed. Endocrinologic complications occurred in 51 (8.1%) patients: Anterior pituitary deficiency in 12 (1.9%), transient diabetes insipidus (DI) in 29 (4.6%), permanent DI in 3 (0.4%) and inappropriate antidiuretic hormone secretion syndrome occurred in 7 (1.1%). There was no mortality directly related to the surgical procedure. The complication rates observed in our study suggests that the endoscopic pituitary surgery is at least as safe as microscopic transphenoidal surgery. These rates were obtained with due experience and well-coordinated teamwork. To further improve these rates, new technological developments will be helpful.     

The alterations of whole saliva constituents in patients with diabetes mellitus

The present study was undertaken in order to determine the possible alterations in whole saliva and the periodontal status in patients with diabetes mellitus (DM), and was conducted on 17 patients with DM and 17 systemically and periodontally healthy subjects. When the subjects were evaluated clinically, significantly increased probing depths were noticed in the DM group when compared with the healthy subjects. In whole saliva samples, sodium, potassium, total protein, amylase, thiocyanate, and secretory IgA levels were determined in both groups. Difference between the two groups regarding the mean salivary potassium levels were found to be statistically significant since the mean salivary potassium levels in the DM and the control groups were 2.470±9.04 mmol/L and 14.30±3.88 mmol/L, respectively. The mean salivary total protein, amylase and secretory IgA levels in the DM group were 2.41±1.0 mg/mL, 124.2±79.7 U/mL and 6.86±3.50 mg/L, all being significantly higher than the control group. However, no significant differences could be shown for the salivary sodium and thiocyanate levels. Nor was there any difference between non-insulin dependent diabetes mellitus (NIDDM) and insulin-dependent diabetes mellitus (IDDM). The findings of the present study suggest that, besides the clinical examinations, the determination of the possible alterations in the composition of whole saliva might also be helpful in understanding the increased severity of periodontal disease in diabetic patients.     

The role of physical exercise in prevention and management of osteoporosis

Clinical Rheumatology - The effect of exercises on vertebral trabecular bone mineral content (BMC) was investigated in 24 women with osteoporosis (OP) diagnosed by Quantitative Computed Tomography...