Congenital crico-thyroid dysplasia: a comprehensive description.

INTRODUCTION: We describe a first case of human congenital crico-thyroid dysplasia associated to a right sided aortic arch and an aberrant subclavian artery. CASE PRESENTATION: Our patient presented with a two-weeks history of acute dyspnea, and reported hoarseness since his childhood. An urgent tracheotomy was performed, followed by direct laryngoscopy. Endoscopic examination showed a deviation of the dorsoventral axis of the larynx, with an obstructive submucosal swelling the area of the right false cord and aryepiglottic fold. Computed tomography conducted the following day confirmed the crico-thyroid dysplasia, an infected laryngocele, and the presence of a right sided aortic arch and an aberrant subclavian artery. CONCLUSION: The embryological basis of these anomalies is attributed to congenital defects of the development of the fourth and sixth pharyngeal arches. To our knowledge, the congenital crico-thyroid dysplasia has not been previously reported in human. This case underscores the importance of recognizing anatomical variations in laryngeal cartilages, understanding their embryological origins, and potential associated malformations.

[Association of thyrolipoma and thyrolipomatosis: A case report]. / Association thyrolipome et thyrolipomatose : à propos d'un cas.

We report a rare case of thyrolipoma-thyrolipomatosis' association. A 48-year-old patient, with a past history of high blood pressure and chronic renal failure secondary to AA amyloidosis, presented with a midline neck swelling increasing in size since one year. Ultrasound showed a multinodular goiter, the worst nodule was left-lobar and categorized as EU-TIRADS 4. Grossly, cut section of the thyroïd specimen showed a yellow-tan left-lobar nodule measuring 2.5cm, the surrounding tissue had a diffuse yellow-brown appearance with scattered whitish areas. Histopathologic examination revealed that the nodule corresponded to a follicular adenoma.Thyroid fat infiltration was noticed both within the nodule and in the neighboring parenchyma. Thus, the diagnosis of an association thyrolipoma-thyrolipomatosis was rendered. The association of thyrolipoma-thyrolipomatosis is a very rare occurrence of unclear pathogenesis. To the best of our knowledge, this report describes the second case in the literature. The diagnosis is retained on the basis of certain histological features, revealing mature adipose tissue within thyroid gland as a combined nodular and diffuse pattern.

Bilateral multifocal nodular oncocytic hyperplasia of the parotid gland: a rare entity.

Multifocal nodular oncocytic hyperplasia is an uncommon oncocytic lesion that rarely occurs in the parotid gland. Here, we report a case of a 43-years-old woman who presented with isolated gradual swelling in the 2 parotid regions. She underwent exofacial right parotidectomy. Histologic exam confirmed the diagnosis of oncocytoma arising in a background of multifocal nodular oncocytic hyperplasia with a histological variant of clear cells. Since the lesion was diagnosed as a benign lesion, surgery of the left side was not done. Our case is characterized by: early onset, the histological variant of clear cells and the presence of synchronous oncocytoma. We describe the clinical, histological and therapeutic features of this entity.

Osteoprotegerin gene polymorphisms and otosclerosis: an additional genetic association study, multilocus interaction and meta-analysis.

BACKGROUND: Otosclerosis (OTSC) is among the most common causes of a late-onset hearing loss in adults and is characterized by an abnormal bone growth in the otic capsule. Alteration in the osteoprotegerin (OPG) expression has been suggested in the implication of OTSC pathogenesis. METHODS: A case-control association study of rs2228568, rs7844539, rs3102734 and rs2073618 single nucleotide polymorphisms (SNPs) in the OPG gene was performed in a Tunisian-North African population composed of 183 unrelated OTSC patients and 177 healthy subjects. In addition, a multilocus association and a meta-analysis of existing studies were conducted. RESULTS: Rs3102734 (p = 0.013) and rs2073618 (p = 0.007) were significantly associated with OTSC, which were predominantly detected in females after multiple corrections. Among the OPG studied SNPs, the haplotypes A-A-C-G (p = 0.0001) and A-A-C-C (p = 0.0004) were significantly associated with OTSC in females. Multilocus association revealed that the SNPs: rs2073618 in OPG, rs1800472 in TGFß1, rs39335, rs39350 and rs39374 in RELN, and rs494252 in chromosome 11 showed significant OTSC-associated alleles in Tunisian individuals. In addition, meta-analysis of the rs2073618 SNP in Tunisian, Indian and Italian populations revealed evidence of an association with OTSC (OR of 0.826, 95% CI [0.691-0.987], p = 0.035). CONCLUSIONS: Our findings suggest that rs3102734 and rs2073618 variants are associated with OTSC in North African ethnic Tunisian population. Meta-analysis of the rs2073618 in three different ethnic population groups indicated an association with OTSC.

Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11ß-hydroxylase deficiency.

Congenital adrenal hyperplasia (CAH), resulting from mutations in CYP11B1, a gene encoding 11ß-hydroxylase, represents a rare autosomal recessive Mendelian disorder of aberrant sex steroid production. Unlike CAH caused by 21-hydroxylase deficiency, the disease is far more common in the Middle East and North Africa, where consanguinity is common often resulting in identical mutations. Clinically, affected female newborns are profoundly virilized (Prader score of 4/5), and both genders display significantly advanced bone ages and are oftentimes hypertensive. We find that 11-deoxycortisol, not frequently measured, is the most robust biochemical marker for diagnosing 11ß-hydroxylase deficiency. Finally, computational modeling of 25 missense mutations of CYP11B1 revealed that specific modifications in the heme-binding (R374W and R448C) or substrate-binding (W116C) site of 11ß-hydroxylase, or alterations in its stability (L299P and G267S), may predict severe disease. Thus, we report clinical, genetic, hormonal, and structural effects of CYP11B1 gene mutations in the largest international cohort of 108 patients with steroid 11ß-hydroxylase deficiency CAH.

Down-expression of P2RX2, KCNQ5, ERBB3 and SOCS3 through DNA hypermethylation in elderly women with presbycusis.

CONTEXT: Presbycusis, an age-related hearing impairment (ARHI), represents the most common sensory disability in adults. Today, the molecular mechanisms underlying presbycusis remain unclear. This is in particular due to the fact that ARHI is a multifactorial complex disorder resulting from several genomic factors interacting with lifelong cumulative effects of: disease, diet, and environment. OBJECTIVE: Identification of novel biomarkers for presbycusis. MATERIALS AND METHODS: We selectively ascertained 18 elderly unrelated women lacking environmental and metabolic risk factors. Subsequently, we screened for methylation map changes in blood samples of women with presbycusis as compared to controls, using reduced representation bisulfite sequencing. We focused on hypermethylated cytosine bases located in gene promoters and the first two exons. To elucidate the related gene expression changes, we performed transcriptomic study using gene expression microarray. RESULTS: Twenty-seven genes, known to be expressed in adult human cochlea, were found in the blood cells to be differentially hypermethylated with significant (p < 0.01) methylation differences (>30%) and down-expressed with fold change >1.2 (FDR <0.05). Functional annotation and qRT-PCR further identified P2RX2, KCNQ5, ERBB3 and SOCS3 to be associated with the progression of ARHI. DISCUSSION AND CONCLUSION: Down-expressed genes associated with DNA hypermethylation could be used as biomarkers for understanding complex pathogenic mechanisms underlying presbycusis.

Bupivacaine wound infiltration reduces postoperative pain and analgesic requirement after thyroid surgery.

BACKGROUND AND OBJECTIVE: We conducted a prospective double-blind randomized study assessing bupivacaine end-of-surgery wound infiltration for pain relief in thyroid surgery. METHODS: Patients were randomly divided into two groups: Group S, local wound infiltration with saline solution; Group B, bupivacaine 0.5% was administered. Pain perception was measured using visual analogue scale (VAS) during post-anaesthetic care unit (PACU) stay every 10 min and during the 24 postoperative hours admission at 2, 4, 6, 12, and 24 h after surgery. The total consumption of analgesics (morphine and nefopam) was recorded. RESULTS: Sixty patients were studied. The VAS scores were significantly lower in the bupivacaine administered group in the post-anaesthetic care unit (PACU) at 0, 10, 20, 30, 40, 50 and 60 min, and during the hospital stay at hours 6, 12, 18 and 24. The number of patients who required postoperative opioid rescue was significantly lower in group B. No patient in group B developed neurological or cardiological complications after infiltration. CONCLUSION: Bupivacaine application is effective in decreasing postoperative pain and analgesic requirement during the hospital stay for patients with thyroidectomy.

Macrozoospermia: screening for the homozygous c.144delC mutation in AURKC gene in infertile men and estimation of its heterozygosity frequency in the Tunisian population.

PURPOSE: Macrozoospermia is a rare condition of male infertility characterized by the presence of close to 100 % large-headed multiflagellar spermatozoa. The homozygous mutation (c.144delC) in aurora kinase C gene (AURKC) has been identified as the most frequent mutation causing macrozoospermia in North African patients. The aim of this study was to evaluate the prevalence of this condition in Tunisia and estimate the frequency of c.144delC mutation among infertile and control populations. METHODS: Sequencing c.144delC mutation was carried out in 33 macrozoospermic patients among 6652 infertile men. Minisequencing of exon3 was performed in 250 unrelated control individuals to estimate the frequency of c.144delC heterozygosity. RESULTS: More than 80 % of macrozoospermic patients were c.144delC homozygous. The prevalence of homozygous c.144delC was 0.4 % among infertile men (27/6652). The frequency of heterozygosity was 0.4 % among controls (1/250). Surprisingly, it is five times less common than established in the general population of North Africa (2 %) or in the Moroccan population (1.7 %). CONCLUSIONS: We show that this mutation is relatively less frequent in the Tunisian population than in other Maghrebian populations. The occurrence of homozygous mutation among infertile men can be attributed to the high rate of consanguinity and its impact on the expression of this autosomal recessive male infertility disorder rather than a high frequency of heterozygous carriers among the general population. This highlights the importance of the molecular analysis of AURKC mutations for infertile men with high percentage of large-headed multiflagellar spermatozoa in order to limit unnecessary in vitro fertilization attempts for them.

Multiplex Minisequencing of the HBB Gene: A Rapid Strategy to Confirm the Most Frequent ß-Thalassemia Mutations in the Tunisian Population.

The ß hemoglobinopathies [ß-thalassemia (ß-thal) and structural hemoglobin (Hb) variants such as Hb S (HBB: c.20A > T) and Hb E (HBB: c.79G > A)] are among the most common inherited diseases worldwide. In Tunisia, due to the high prevalence of consanguineous marriages, the recurrent risk of this disease is high. The average prevalence of hemoglobinopathies is 4.48%, reaching 12.50% in some focus regions. The molecular investigations on thalassemia contributed to establishing the spectrum of mutations in the Tunisian population. The total number of HBB gene mutations identified was 24. The two most frequent mutations, codon 39 (C > T) (HBB: c.118C > T) and IVS-I-110 (G > A) (HBB: c.93-21G > A) accounted for 70.0% of the total encountered ß-thal cases. These two mutations together with IVS-I-2 (T > G) (HBB: c.92 + 2T > G) and the Hb S variant account for more than 90.0% of all HBB genetic variants in Tunisia. Thus, developing rapid, inexpensive and reliable mutation-specific molecular diagnostic assays targeting our Tunisian populations is our aim to facilitate routine detection of hemoglobinopathies. In this report, we describe the successful application of the multiplex minisequencing assay as an alternative strategy for genetic diagnosis of HBB gene disorders in Tunisia.

Therapeutic Management of Primary Atrophic Rhinitis (Ozene): About 4 Cases.

Objective: To study the clinical characteristics and therapeutic means of primary atrophic rhinitis. Method: We present 4 cases of atrophic rhinitis caused by Klebsiella ozaenae observed in our hospital over a period of 5 years. Results: All patients presented the clinical triad: mucosal atrophy, presence of crusts, and cacosmia. Treatment was medical in 3 patients and surgical in 1 patient. We used rifampicin and sulfamethoxazole as antibiotics as well as trimethoprim for a period of 4 months. The surgical treatment consisted of recalibration of the nasal cavities by placing 2 silicone sticks in the subperiosteum. The evolution was marked by obstruction and cacosmia in 3 out of 4 patients. Conclusion: The treatment of primary atrophic rhinitis poses a problem for the clinician in terms of means and therapeutic effectiveness given that it is a chronic pathology requiring regular monitoring.

Glottal Features in Vocal Assessment Following Thyroidectomy.

OBJECTIVES: Vocal dysfunction is a frequent complication following thyroidectomy that can be associated with a negative impact on patients' quality of life. Although the effect of thyroidectomy on acoustic features has been widely studied, the examination of glottal flow characteristics to assess vocal outcomes following thyroid gland surgery has not been included in empirical research, to date. The goal of our study was to evaluate early and short-term vocal outcomes following thyroidectomy based on the analysis of glottal acoustic features during speech production. STUDY DESIGN: Prospective analytical study. MATERIALS AND METHODS: We evaluated vocal outcomes in patients who underwent thyroidectomy between September 2021 and March 2022. We extracted glottal flow features from their vocal recordings preceding surgery and postoperatively at Day1 and Month1 postoperatively. The extraction of glottal features was performed using a signal processing-based approach. We extracted the following features: Open quotients (OQ1 and OQ2), Quasi-open quotient (QoQ), Closing quotient (ClQ), Amplitude quotient (AQ), Normalized Amplitude quotient (NAQ) and Speed quotients (SQ1 and SQ2). We included 39 patients. OQ2 and QoQ decreased significantly at Day1 and Month1. OQ1 and NAQ decreased significantly at Month1. ClQ remained stable at both postoperative assessments. AQ decrease was not significant at both dates. SQ1 increased at Day1 and Month1 but the change was not significant. SQ2 decreased significantly at both Day1 and Month1. OQ, QoQ, AQ, NAQ, and SQ2 did not recover at Month1. We noted that the decrease of SQ1 and SQ2 correlated significantly with the increase of the Voice Handicap Index-10 (VHI-10) at Month1. CONCLUSION: The analysis of glottal acoustic features can be a reliable modality to detect vocal changes following thyroidectomy. Thyroidectomy was associated with a vocal dysfunction that was manifested by the decrease of open, amplitude, and speed quotients. Glottal features can present a potential tool to objectively assess the effect of thyroidectomy on vocal folds movements.

External auditory canal metastasis revealing bronchogenic carcinoma: A case report and literature review.

This report presents a rare case of bronchogenic adenocarcinoma with initial metastasis in the external auditory canal. The patient, a 64-year-old man with a history of bladder urothelial carcinoma, initially presented with a persistent right otitis externa. Otoscopic examination revealed a mass obstructing the right external auditory canal. The temporal bone computed tomography scan revealed a mass that completely obstructed the right external auditory canal and extended into the middle ear. A biopsy showed a poorly differentiated adenocarcinoma of bronchogenic origin, confirmed by positive immunohistochemical staining for cytokeratin 7 and Thyroid transcription factor-1. Further imaging revealed a large tumor mass in the lung involving the mediastinum and parenchyma, along with carcinomatous lymphangitis and cerebral metastasis. Histopathological examination of the primary lung tumor confirmed a poorly differentiated adenocarcinoma with similar features to the metastasis in the external auditory canal. The tumor was staged as T4N2M1c, and the patient underwent local external-beam radiation therapy with chemotherapy.

Pregnancy-Related Recurrent Benign Goiter With Intratracheal Extension.

This report describes the unique case of a 37-year-old pregnant patient with a history of total thyroidectomy who presented worsening dyspnea due to a recurrent benign goiter. The goiter grew through the tracheal wall and narrowed the tracheal lumen. After unsuccessful treatment with bronchodilators and corticosteroids, the patient underwent an emergency tracheostomy and cesarean section. Cervicothoracic computed tomography revealed a 4 cm mass in the left lobe of the thyroid gland with endotracheal extension in the subglottic region. Exploratory cervicectomy revealed a macroscopically resected mass that resembles the structure of the thyroid, adherent to the esophagus, anterior to the cricoid cartilage, and the trachea. Intratracheal thyroid tissue was not excised due to the increased risk of bleeding, and endoscopically guided biopsies were performed. Histopathological examination confirmed the benign nature of the thyroid tissue. A follow-up computed tomography scan after 2 months showed spontaneous regression of the intratracheal mass, and the tracheostomy tube was successfully removed without complications.

Lymphoepithelial carcinoma of the parotid gland.

Primary lymphoepithelial carcinoma of the salivary glands is an exceptional oncological condition that predominantly emerges within the parotid gland. A significant prevalence of lymphoepithelial carcinoma has been reported in the Inuit population, along with an associated positive serology for Epstein-Barr virus in these endemic regions. In this paper, we present a case of primary lymphoepithelial carcinoma of the parotid gland in a 68-year-old female patient with a history of diabetes and hypertension residing in a non-endemic area. Histology plays a critical role in the definitive diagnosis, and confirming the primary origin of lymphoepithelial carcinoma after ruling out metastasis from undifferentiated nasopharyngeal carcinoma. The mainstay of treatment is a combination of surgical resection and adjuvant radiotherapy. Inoperable forms are typically managed with chemoradiotherapy.

Auricular mucormycosis complicated by parotid abscess and facial paralysis: A very rare case report.

Mucormycosis is a serious and relatively rare invasive fungal infection. The rhino-orbito-cerebral localization is the most frequent. Other localizations have been reported including: cutaneous, pulmonary, disseminated, gastrointestinal, and miscellaneous. Mucormycosis of external ear with facial palsy is extremely rare and only few cases have been reported in the literature. We describe a case of mucormycosis of the external and middle in a 44-years-old diabetic patient which had a very aggressive form of necrotic infection of the ear auricle complicated by parotid abscess, facial, and vagal nerve paralysis. Auricular mucormycosis was suspected and the diagnosis was established after biopsy and histological examination. The patient was treated immediately with intravenous amphotericin B followed by extensive surgical debridement of the necrotic lesions. The patient responded well to the treatment despite the persistence of facial palsy.

A juvenile pleomorphic adenoma of the palate.

Salivary gland tumors in children are rare; involvement of accessory salivary glands is exceptional. We report a case of pleomorphic adenoma of the palate in a child (an 8-year-old girl) addressed by her dentist for discovering a swelling in the palate. Clinical examination revealed a firm, non-tender, nodular swelling in the left hard palate, measuring 1.5 cm × 1.5 cm, situated adjacent to the upper left second molar. Physical examination did not show signs of inflammation or surface ulceration. Oral cavity computed tomography scan did not show bone lysis. The tumor was removed with negative margins. No recurrence was noted. We aim to describe the clinical, radiological features, as well as the management of this rare localization of pleomorphic adenoma.

Association between mean platelet volume and cardiovascular disease in obstructive sleep apnea syndrome.

Objectives: Obstructive sleep apnea syndrome is associated with cardiovascular diseases. Mean platelet volume has emerged as a marker of prothrombotic conditions and cardiovascular risk. The aim of this study was to investigate the association between the mean platelet volume and cardiovascular diseases in patients with obstructive sleep apnea syndrome. Methods: The medical records of 207 patients were analyzed. Obstructive sleep apnea syndrome was diagnosed by polygraphy, and patients were classified according to apnea-hypopnea index: control group: individuals with simple snoring (apnea-hypopnea index < 5), mild obstructive sleep apnea syndrome group (5 ⩽ apnea-hypopnea index < 15), moderate obstructive sleep apnea syndrome group (15 ⩽ apnea-hypopnea index < 30), and severe obstructive sleep apnea syndrome group (apnea-hypopnea index ⩾ 30). Mean platelet volume was obtained from medical records. Cardiovascular diseases were defined if patients had hypertension, heart failure, coronary artery disease, or arrythmia. The independent predictors related to cardiovascular diseases in obstructive sleep apnea syndrome were determined by using multiple logistic regression analysis. Results: Of the patients, 175 were included in the analysis. Sixty-three (36%) were males and 112 (64%) were females. The mean age was 51.85 ± 11 years. There were, 26 (14.9%), 53 (30.3%), 38 (21.7%), and 58 (33.1%) participants in the simple snoring, mild, moderate, and severe obstructive sleep apnea syndrome groups, respectively. Cardiovascular diseases were significantly different between the four groups (p = 0.014). Mean platelet volume in severe obstructive sleep apnea syndrome group was significantly higher than in mild or moderate obstructive sleep apnea syndrome group and simple snoring group (p < 0.05). Moreover, there was a positive correlation between mean platelet volume levels and apnea-hypopnea index (r = 0.424; p < 0.001). The independent predictors of cardiovascular diseases in obstructive sleep apnea syndrome were age (p < 0.001; odds ratio = 1.134; confidence interval: 1.072-1.2), body mass index (p = 0.012; odds ratio: 1.105; confidence interval: 1.022-1.194), and mean platelet volume (p < 0.001; odds ratio: 2.092; confidence interval: 1.386-3.158). Conclusion: The present study demonstrated that there is an association between mean platelet volume levels and cardiovascular diseases in patients with obstructive sleep apnea syndrome.

Traumatic Pseudoaneurysm Arising From Proximal Facial Artery: A Case Report and Literature Review.

Pseudoaneurysms of facial artery usually arise from the distal part of the vessel. Only 4 cases were described in the literature involving the proximal part of facial artery. We present a case of a traumatic pseudoaneurysm involving the proximal part of facial artery. A 50-year-old man was referred to our department for a progressively growing submandibular mass. He was injured by a sharp object during a car crash 30 days ago. After 3 weeks, the patient noted the appearance of a subcutaneous mass in the left submandibular area. Physical examination revealed a freely movable, painful, and pulsatile swelling. Ultrasound and computerized tomography scan showed a nodular lesion in the left submandibular area in continuity with the facial artery. The diagnosis of pseudoaneurysm of facial artery was suspected. The patient was treated by surgery. The pseudoaneurysm was resected with ligation of the proximal and distal ends of the facial artery.

The Effect of Topical Tranexamic Acid in Endoscopic Sinus Surgery: A Triple Blind Randomized Clinical Trial.

OBJECTIVE: Our aim is to evaluate the effect of topical tranexamic acid (TA) on bleeding and surgical quality field in the functional endoscopic sinus surgery (FESS). METHODS: A total of 74 patients who underwent FESS due to chronic rhinosinusitis were included. The patients were randomized into 2 groups. TA group (n = 37) received a topical cotton pledget soaked with TA and placebo (PL) group (n = 37) received a pledget soaked with saline solution. RESULTS: A significant effect was noted for the TA group versus the PL group in the grade 1 of the Boezaart scale at 35 minutes (4 for TA group and no case for PL group). This effect was absent for higher grades. We did not notice a significant effect between the 2 groups at 5 minutes. Blood loss was 359 ml in the TA group versus 441 ml in the PL group. No significant change was observed between the 2 groups concerning the blood parameters. No side effects were reported. CONCLUSION: Despite its safety when administrated locally and its low cost, TA provides limited effect on quality of surgical field after 35 minutes of the start of FESS in the patients with chronic rhinosinusitis. This effect was absent at the start of the intervention and when analyzing the blood loss and hematologic parameters.

Apocrine Hidrocystoma of the Parotid Gland.

Apocrine hidrocystoma is a cystic tumor originating from apocrine sweat glands. It is predominantly located in the eyelid margins. Here, we report a case of apocrine hidrocystoma of the parotid gland in a 19-year-old man who was referred to our outpatient clinic with a 5-year history of a gradual swelling in the left parotid region. The patient underwent left superficial parotidectomy. Histological examination confirmed the diagnosis of apocrine hidrocystoma. The case is original by the tumor's location: to the best of our knowledge, this could be the first case in English and French literature reporting an apocrine hidrocystoma affecting the parotid gland. The purpose of this article is to report our case and discuss its clinical and anatomopathological features as well as its differential diagnoses.