Clinical spectrum of patients diagnosed with childhood mastocytosis: a retrospective single center experience.

Summary: Background. Pediatric cutaneous mastocytosis patients diagnosed and followed up by our specialist were enrolled in this study, and clinical and laboratory evaluations were retrospectively analyzed from patients' archived files. Methods. Patients, who applied to the Division of Pediatric Allergy And Immunology Unit of a University Training and Research Hospital between 01.01.2010 and 28.04.2021, were enrolled in this study. Results. Of the 33 patients included in the study, 11 (33.3%) were female and 22 (67.7%) were male. The median age of onset of the patient's complaints was 7 (0-60) months. The median age at diagnosis was 11 (2-64) months. Their complaints' median regression age was 54 (6-192) months. Resistant clinical findings were followed in 13 (39.4%) patients. Itching, redness, gastrointestinal symptoms, and maculopapular eruption were the most common complaints. The rashes were mostly polymorphic and larger than 1 cm. Heat was the most common trigger. Darier's sign was positive in 97% of the patients. Antihistamines were the most commonly used drug for prophylaxis and treatment. The autoinjector prescription rate was 24.2%. Conclusions. Quality of life was mildly affected in 48,5% of the patients based on the CDLQI scores. Thus, patients should be followed up through adolescence for the development of systemic signs and symptoms.

Bilateral dacryocystocele with an intranasal cyst as the cause of respiratory distress in a newborn.

A congenital dacryocystocele with an intranasal cyst is an uncommon lesion that is usually treated by ophthalmologists, although sometimes an otorhinolaryngologist is consulted first because of nasal obstruction. The nasal cavity is narrow in newborns and can easily be obstructed, even by small lesions. Prolapse or expansion of the cyst into the nose may lead to respiratory distress and difficulty in feeding, since newborns are obligate nose breathers. Here we report a case of bilatera dacryocystocele with intranasal extension in a 3-day-old female infant. The infant presented with respiratory distress and episodic desaturation and was managed successfully by bilateral endoscopic marsupialization of the intranasal cysts. This case report discusses the diagnosis and management and reviews the relevant literature. These finding suggest tha congenital dacryocystocele with an intranasal cyst must be considered in the differential diagnosis of newborns suffering from nasal respiratory difficulty.

A case of a sinonasal adenocarcinoma with metaplastic ossification.

Sinonasal adenocarcinomas are rare tumours, with three subtypes. They are mostly low-grade tumours, although they can also be aggressive. In this case report, we describe a 34-year-old patient with sinonasal adenocarcinomas. Within his nasal cavity was found an irregular mass. Given the intratumoral calcification and bone, the mass was thought to be a bone-producing tumour, such as an osteosarcoma. The pathological diagnosis was a sinonasal adenocarcinoma with extensive metaplastic bone. To the best of our knowledge, this is the first case of a sinonasal adenocarcinoma with metaplastic ossification.

Genome-wide copy number variation analysis in idiopathic intellectual disability/multiple congenital anomalies.

New array technologies have facilitated the analysis of submicroscopic chromosomal imbalances and structural variants. Copy number variation (CNV) analysis can reveal genetic imbalances in up to 10% of cases involving intellectual disability (ID), with or without multiple congenital anomalies (MCA). Here we present 4 cases, diagnosed by CNV analysis using Affymetrix Genome Wide Human SNP 6.0 array, and their parents. CNVs ranging from 18 to 196 per subject, with a size range of 100kb- 6093kb, were detected in all cases. One case revealed inherited CNVs, whilst de novo ins/dels were found in the other three which may be causative factors in the development of clinical pictures. Microarray technology may help to reveal the etiology of ID and is a potentially useful diagnostic tool for patients with ID/MCA.

Subtelomeric rearrangements in patients with idiopathic intellectual disabilitiy/ multiple congenital anomalies and recurrent miscarriages: seven years' experience.

Cryptic subtelomeric anomalies are a significant cause of idiopathic intellectual disability and/or multiple congenital anomalies (ID/MCA) and multiple miscarriages (MM). Effective preselection of patients is essential as the cost of subtelomeric testing is high and it is labor-intensive. Therefore, the aim of this study is to evaluate the frequency of subtelomeric anomalies by using commercial FISH probes in 151 patients of ID/MCA and 32 couples with MM who were referred to a genetic center during 7-year period and to determine whether performing subtelomeric testing is feasible for these groups of patients. We assessed the clinical information of all referrals including family history, physical examination, facial dysmorphism, congenital malformations and scored the ID/MCA patients according to the criteria suggested previously. The etiology was not elucidated and all patients had normal karyotypes. Subtelomeric deletions were found in 10 patients in ID/MCA group (6.62%). These were deletions of 14qter (2 patients), 18qter (2 patients), 18pter (2 patients), 15qter, 7pter, 8pter and 4qter. The clinical information of all patients having deletions has been summarized and confined with the current literature. No anomaly was detected in the MM group. In conclusion, the prevalence of subtelomeric anomalies in ID/MCA group in this study is consistent with the literature and subtelomeric FISH analysis is feasible in determining their etiology when a checklist is used. Besides, assessment of the genetic basis of ID/MCA had lead the prevention of the recurrence of such conditions in selected families as well as elucidating novel genetic causes of ID.

A new clinical presentation associated with pontine clefting, hyperpigmentation and short stature in addition to craniofacial, cardiac and developmental anomalies.

We report on a 13-year-old girl who was the first child of nonconsanguineous parents, and who suffered from short stature accompanied with mental retardation, generalized hyperpigmentation of the skin and craniofacial findings. Her cardiological examination revealed atrial septal defect, mitral valve prolapsus and atrial septal aneurysm. Brain scans revealed dilatation of the third and lateral ventricles and a pontine cleft. Growth hormone (GH) deficiency was observed during the evaluation of GH/IGF-I axis. All the laboratory tests performed including metabolic screening, conventional karyotype and oligonucleotide array were normal. Mutation analysis of the C2ORF3 7 gene revealed no mutation. The clinical signs seen in this patient likely represent a new dysmorphological syndrome which has not been previously described.

Thyroglossal duct cysts: evaluation and treatment of 49 cases.

OBJECTIVE: The aim of the study was to evaluate the clinical features and treatment outcomes of patients with a thyroglossal duct cyst (TGDC) or fistula. METHODS: The records of 49 patients (9 female, 40 male; mean age: 23.16 +/- 1.13 years; range 6 to 56 years) operated on between January 1995 and July 2009 were reviewed retrospectively. Patient's age, sex, duration of symptoms, clinical features, pre-operative diagnostic tests, treatment, histopathologic diagnosis, and post-operative complications were noted. All patients underwent the Sistrunk procedure. RESULTS: Fifteen patients (30.6%) were < or = 20 years old, while 3 (6.1%) patients were 40 years old at the time of operation. There was cyst formation in 26 patients (53.1%) and fistula formation in 23 patients (46.9%). The lesions of 41 patients (83.7%) were located in the midline, while the lesions of 8 patients (16.3%) were located in the paramedian neck (5 left side, 3 right side). The most common presenting symptoms were painless mass in the midline of the neck and recurrent suppuration of fistula formation. Neck ultrasonography (USG) was the most common pre-operative diagnostic procedure and was performed on all patients with cyst formations. There were no major complications postoperatively. There was recurrence in only one patient after the Sistrunk procedure. One patient was incidentally diagnosed with thyroid papillary carcinoma after histopathological examination. CONCLUSIONS: A TGDC is the most common congenital mass in the neck and is usually located midline. USG is suggested for a clinically suspected TGDC. The Sistrunk procedure is a safe and successful technique with low complication and recurrence rates. Even though carcinomas arising in TGDCs are uncommon, histopathological examination must be routinely performed to confirm the diagnosis and rule out malignancy.

Improving the rhinomanometry technique using benzoin tincture.

OBJECTIVE: In order to achieve a faster and more reliable anterior rhinomanometric evaluation, nasal skin was prepared using benzoin tincture solution, which provides simpler and better adhesion of the foam tape to the nasal skin. METHOD: Two consecutive anterior rhinomanometry measurements were made, one with and one without benzoin tincture application. RESULTS: The average time taken to perform classic foam tape anterior rhinomanometry without benzoin tincture application was 281.32 seconds, and the average coefficients of variation for the right and left passages were 7.48 and 7.59 per cent, respectively. When benzoin tincture was used, the average time taken for completion of the tests was 121.24 seconds, and the average coefficients of variation for the right and left passages were 2.17 and 2.32 per cent. CONCLUSION: The use of benzoin tincture to clean the nasal skin before placing foam tape shortens the procedure duration and significantly increases test reliability.

The effects of different suture materials in the nasal cavity.

OBJECTIVE: To investigate the effects of different suture materials in the nasal cavity on encrustation and micro-organism colonisation. METHODS: Four different suture materials were used to suture the nasal septum. The effects of suture materials on intranasal encrustation were evaluated with anterior rhinoscopy. The sutures were removed and evaluated in terms of micro-organism colonisation on the 7th and 21st post-operative days. RESULTS: Monofilament sutures were found to cause less encrustation and micro-organism colonisation. There was increased late-stage encrustation if an absorbable monofilament suture remained in place for a long time. The removal of a non-absorbable monofilament suture in the early or late post-operative period made no difference in terms of micro-organism growth on the suture. CONCLUSION: The material and physical characteristics of sutures placed inside the nose may indirectly affect the healing process. It may be more appropriate to use different materials depending on the length of time the suture is to remain in place.

Significance of fascin expression in laryngeal squamous cell carcinoma.

OBJECTIVE: Fascin is an actin-binding protein which is expressed in the basal areas of healthy squamous epithelium. Although overexpression of fascin has been shown in many tumours, the relationship between fascin and laryngeal squamous cell carcinoma has not previously been investigated, to the best of our knowledge. This study aimed to investigate the relationship between fascin expression and tumour behaviour in 30 cases of laryngeal squamous cell carcinoma. MATERIALS AND METHODS: For all lesions, a section of paraffin-embedded tissue was immunohistochemically stained for fascin. The percentage of positive, stained cells was scored from one to five (one = 0-5 per cent, two = 6-25 per cent, three = 26-50 per cent, four = 51-75 per cent and five = 76-100 per cent), and the staining intensity from one to three (one = mild, two = moderate and three = strong). A total immunohistochemical fascin expression score was obtained by multiplying the staining percentage and intensity. The relationship between the total fascin score and each case's age, sex, tumour localisation, tumour-node-metastasis stage and differentiation was evaluated statistically. RESULTS: Various amounts of fascin expression were observed in all cases. There was a statistically significant relationship between high levels of fascin expression (i.e. a total fascin score of 10 or more) and the cases' tumour stage (p = 0.022), node stage (p = 0.024) and clinical stage (p = 0.014). In addition, worsening tumour differentiation was associated with an increasing fascin score, but this finding was statistically insignificant. CONCLUSION: These results suggest that laryngeal squamous cell carcinomas with high levels of fascin expression may be more aggressive than those with low expression levels. Further studies with larger series are needed to support these results and to clarify rationales.

Relationship between nasal cavity volume changes and nasalance.

OBJECTIVES: The patency and volume of the nasal cavity affect the acoustic characteristics of the voice. The aim of this study was to investigate the effect of a nasal decongestant on nasal volumes and nasalance scores, and to determine the relationship between these measures. METHODS: Acoustic rhinometry and nasometry were performed in a group of 21 adult volunteers both prior to and following application of a nasal decongestant. The relationship between changes in nasalance scores and acoustic rhinometric parameters was investigated. RESULTS: After the application of nasal decongestant, statistically significant increases were observed in nasalance scores and in all of the acoustic rhinometric parameters assessed (i.e. minimal cross-sectional area, three cross-sectional areas, three volumes and total volume). However, no significant correlation was found between the changes in nasalance scores and acoustic rhinometric parameters. CONCLUSIONS: Nasal decongestion causes an increase in nasalance scores and nasal cavity volumes. However, the findings of this study indicate that changes in nasalance scores may result from factors other than nasal cavity volume changes.