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.

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.

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.

Acute Retropharyngeal and Parapharyngeal Abscesses: A Case Series.

OBJECTIVE: The purpose of this study was to evaluate the diagnosis circumstances, predisposing factors, investigations, and therapeutic management of retropharyngeal and parapharyngeal abscesses. METHODS: A retrospective chart review of patients diagnosed with retropharyngeal or parapharyngeal abscess from 2001 to 2021 was performed. Epidemiological characteristics, clinical signs, investigations, medical treatment, and surgical interventions were analyzed for each patient. RESULTS: A total of 30 patients with retropharyngeal or parapharyngeal abscess were identified. Computed tomography was performed in all cases, and magnetic resonance imaging was performed in three cases. Twelve patients had a "pure" retropharyngeal abscess, nine patients had a prestyloid abscess, one patient had a prestyloid abscess associated with a peritonsillar abscess, three patients had a retrostyloid abscess, and five patients had a prestyloid abscess associated with a retropharyngeal abscess or a retrostyloid abscess. The median long axis of the abscess was 42 cm. All patients received intravenous antibiotics for a median period of 8 days [4-30]. Seventeen patients required surgical trans-cervical drainage. Other patients underwent transoral or transnasal drainage. The pus culture revealed no growth in six cases, streptococcus (four cases), methicillin-sensitive Staphylococcus aureus (two cases), Klebsiella (two cases), Enterobacter (one case), Fungi (two cases), and Mycobacterium tuberculosis (a twelve-year-old boy). It was not documented in twelve cases. Histological examination revealed caseofollicular tuberculosis in a 53-year-old man. In 25 patients, no adverse events were observed during follow-up. Five patients had an unfavorable outcome. CONCLUSION: We have found an increase in the incidence of these infections in recent years. Computed tomography is the best imaging examination for the diagnosis and follow-up of retropharyngeal and parapharyngeal abscess. Early drainage and antimicrobial therapy are essential for rapid recovery and prevention of complications of these abscesses.

Ketamine infiltration improves analgesia after thyroid surgery.

Background: Postoperative pain increases the risk of postoperative complications and may predispose patients to chronic post-surgical pain. This study aims to evaluate the impact of ketamine wound infiltration versus placebo at the end of thyroid surgery on postoperative pain and analgesic requirements. Methods: In this randomized controlled trial, we prospectively studied patients who underwent thyroid surgery. Patients were randomized into two groups: group S, where local infiltration was performed using 10 ml of a physiological saline solution; and group K, where 10 ml of a solution containing 2 mg/kg ketamine was infiltrated. Standardized thyroidectomies were performed in the 2 groups. Pain perception was measured using a visual analog scale (VAS) every 10 minutes in the post-anesthetic care unit (PACU) for 2 hours and thereafter every 6 hours during the first 24 hours. The opioid requirement in the PACU was evaluated. A comparison between the 2 groups was carried out. Results: Postoperatively, the mean VAS was higher in group S compared to group K during all PACU stay periods and the first 24 hours. Pain scores during swallowing were significantly lower for group K in the PACU at 0, 10, and 20 minutes. The mean morphine consumption in the PACU was 0.71 mg and 0 mg respectively in group S and group K (p=0.03). The incidence of nausea and vomiting was similar in both groups. Conclusions: Ketamine wound infiltration is an efficient modality to reduce postoperative opioid consumption compared to a placebo after thyroid surgery.

Isolated frontal sinus fungus ball: Diagnostic and therapeutic features and the role of endonasal endoscopic approach.

Fungus ball (FB) is a non invasive form of fungal sinusitis that generally affects immunocompetent subjects. Isolated involvement of the frontal sinus is extremely rare. The treatment is surgical. Previously, it was based on the external approach. Recently, the endoscopic approach has been increasingly employed. We report three cases of frontal sinus fungus ball. Two patients underwent endoscopic endonasal frontal Draf type IIb sinusotomy with complete removal of the pathologic material. The third patient had an external approach due to the extensive pneumatisation of the frontal sinus, the defect in its floor and the orbital involvement. There were no intraoperative or postoperative complications. No recurrence of the disease was observed during the three, two and twelve months' follow up period, respectively. Correct clinical and radiological diagnosis of isolated frontal sinus FB still remains a challenge. Endoscopic sinus surgery with endonasal Draf type IIb or type III frontal sinusotomy is effective for the treatment of frontal sinus FB. It is the treatment of choice and replaces the traditional external approaches.

Diplopia Secondary to Gastric Adenocarcinoma Metastasis to the Superior Oblique Muscle.

While gastric cancer often metastasizes to the liver, lymph nodes, and lungs, skeletal muscle metastasis is a rare event. The most common primary tumor metastasizing to the extraocular structures is breast cancer. Gastric carcinoma metastatic to the extraocular muscles is a rare event announcing a spreading disease with a bad prognosis. Here, we report a case of an asymptomatic gastric carcinoma metastasizing to the superior oblique muscle diagnosed via an endoscopic endonasal biopsy.

Predictive factors for hypothyroidy after hemithyroidectomy.

Background: Hemithyroidectomy is one of the most common procedures performed. It is used to treat patients with benign unilateral nodules. Hemithyroidectomy results in fewer risks of hypothyroidism and the need for thyroid hormone replacement therapy. The present study was designed to identify potential clinicopathologic risk factors associated with the onset of biochemical hypothyroidism. Methods: We conducted a retrospective review of all patients who underwent hemithyroidectomy between 2004 and 2019. Hypothyroidism was defined as a serum thyrotropin level greater than 5 mIU/L. The patients were analyzed for age, sex, preoperative and postoperative thyroid stimulating hormone (TSH), state, side, and volume of the remaining lobe, and histologic diagnosis. Results: Hypothyroidism was diagnosed in 30.8% of 214 patients. This complication appeared in the first year in 83.3% of the cases. A preoperative TSH level greater than 1.32 mIU/l, a remaining volume of the lobe less than 3 ml, and the presence of thyroiditis were associated with a significant increase in the risk of developing hypothyroidism (p<0.01). There were no significant differences in age, sex, state, and side of the remaining lobe. The mean thyroxine dose was 57 ± 26 micrograms. Conclusions: The risk of hypothyroidism after hemithyroidectomy should be assessed prior to surgery. Close monitoring is recommended in patients at high risk of developing this complication. However, all patients who undergo hemithyroidectomy should be monitored at least for the first year.

Gene-environment interactions between ERCC2, ERCC3, XRCC1 and cadmium exposure in nasal polyposis disease.

Gene-environment interactions have long been known to play an important role in complex disease aetiology, such as nasal polyposis (NP). The present study supports the concept that DNA repair gene polymorphisms play critical roles in modifying individual susceptibility to environmental diseases. In fact, we investigated the role of polymorphisms in DNA repair genes and cadmium as risk factors for Tunisian patients with NP. To the best of our knowledge, this is the first report on the impact of combined effects of cadmium and ERCC3 7122 A>G (rs4150407), ERCC2 Lys751Gln (rs13181) and XRCC1 Arg399Gln (rs25487) genes in the susceptibility to NP disease. Significant associations between the risk of developing NP disease and ERCC2 [odds ratio (OR) = 2.0, 95 % confidence interval (CI) = 1.1-3.7, p = 0.023] and ERCC3 (OR = 2.2, 95 % CI = 1.2-4.1, p = 0.013) genotypes polymorphisms were observed. Blood concentrations of Cd in NP patients (2.2 µg/L) were significantly higher than those of controls (0.5 µg/L). A significant interaction between ERCC3 (7122 A>G) polymorphism and blood-Cd levels (for the median of blood-Cd levels: OR = 3.8, 95 % CI = 1.3-10.8, p = 0.014 and for the 75th percentiles of blood-Cd levels: OR = 2.7, 95 % CI = 1.1-7.2, p = 0.041) was found in association with the risk of NP disease. In addition, when we stratified ERCC2, ERCC3 and XRCC1 polymorphism genotypes by the median and 75th percentiles of blood-Cd levels, we found also significant interactions between ERCC2 (Lys751Gln) and ERCC3 (7122 A>G) genotypes polymorphism and this metal in association with NP disease. However, no interaction was found between XRCC1 (Arg399Gln) polymorphism genotypes and Cd in association with NP disease.

Proteins oxidation and autoantibodies' reactivity against hydrogen peroxide and malondialdehyde -oxidized thyroid antigens in patients' plasmas with Graves' disease and Hashimoto Thyroiditis.

The aim of this study was to evaluate proteins oxidation in plasmas of two autoimmune thyroid diseases (AITD): Graves' disease (GD) and Hashimoto Thyroiditis (HT), and to determine whether oxidative modification of thyroid antigens (T.Ag) enhanced the reactivity of autoantibodies in plasmas of AITD patients compared with the reactivity towards native T.Ag. Carbonyl and thiol groups and MDA-protein adducts were assessed spectrophotometric methods in plasmas of 74 AITD patients and 65 healthy controls. The reactivities immunoglobulin (Ig)G autoantibodies towards malondialdéhyde (MDA)-modified T.Ag, hydrogen peroxide (H2O2)-modified T.Ag, native T.Ag and native derm were checked by enzyme-linked immunosorbent assay (ELISA). Evaluation of oxidized proteins exhibited high levels of MDA bound to proteins and carbonyl groups, as well as reduced thiol level in plasmas of AITD patients by comparison to healthy controls (p < 0.05). The ELISA test showed that AITD patients' plasmas' reactivity to native T.Ag was significantly increased to the reactivity towards native derm, whereas, no differences were found in the reactivity to native T.Ag and derm in controls plasmas. In addition, treatment of T.Ag by oxidants revealed enhanced reactivity of IgG circulating autoantibodies against H2O2-oxidized T.Ag compared to native ones (p < 0.001) in plasmas of both AITD. Also, reactivity's to MDA-oxidized T.Ag in GD plasmas decreased compared to native ones (p < 0.05) and no changes were noted for HT. Pearson correlation study resulted in positive correlation between reactivity's to H2O2-oxidized T.Ag and free triodotyronine level in GD patients (r = 0.42, p < 0.05) in one hand and thyroid stimulating hormone level in HT patients in the other (r = 0.65, p < 0.001). The data suggest that high production of H2O2 probably occurred during hormone synthesis could contribute to protein oxidation in AITD and to create neoepitopes responsible for autoantibody reactivity's to H2O2-oxidized T.Ag enhancement. These results provide support to the involvement of oxidative stress in AITD development and/or exacerbation.

Heavy metals in normal mucosa and nasal polyp tissues from Tunisian patients.

Despite growing evidence that bacteria, fungi, allergens, and superantigens play a prominent role in the pathophysiology of nasal polyps (NP), the exact cause of polyposis is still unknown. The etiology of NP is considered multifactorial. Until now, there is no information on the presence of heavy metals, such as cadmium (Cd), chromium (Cr), nickel (Ni), and arsenic (As) or of their role, in the pathogenesis of NP disease. In this study, concentrations of these four metals in tissue of NP were determined using Atomic Absorption Spectrometry. The Ni, Cr, and As levels in NP tissues were 2.1-, 3.2-, and 8.0-fold higher than those of normal mucosa (p < 0.05), respectively. A strong effect of cumulative smoking as expressed in the number of pack per year (PY), Ni, As, and Cd levels in NP tissue samples of patients ever-smokers (1-20 and >20 PY) are significantly higher than those of non-smokers (p = 0.006, 0.002, and < 0.001, respectively). The highest As concentrations among patients lived at polluted areas (1-25 and > 25 years) were observed in both nasal mucosa and NP tissues. The Ni and As in both nasal mucosa and NP tissues of patients occupationally exposed were significantly higher than non-exposed group. Cr and As levels were found to be associated with NP stage classification (p < 0.05). This is the first report to describe an association between concentrations of metals (Cr, As, and Ni) in human NP tissues and the risk of NP disease. Tissue metal levels have increased due to smoking, environmental, and occupational exposure. Therefore, heavy metal exposure may increase the risk of NP in the Tunisian population. The considerable risk in the category of highest cumulative exposure argues for an association between heavy metals exposure and nasal polyposis risk. Future investigations with larger samples should better elucidate this association.

A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans.

Branchio-oto-renal (BOR) and Branchio-otic (BO) syndromes are dominant disorders characterized by variable hearing impairment (HI) and branchial defects. BOR includes additional kidney malformations. BO/BOR syndromes are genetically heterogeneous and caused by mutations in EYA1 and SIX1 genes. Mutation in SIX1 is responsible also for DFNA23, a locus for non-syndromic HI. Strikingly, the severity of the phenotype did not seem to correlate with the type of SIX1 mutation. Herein, we identified a novel mutation in SIX1 (p.E125K) in a Tunisian family with variable HI and preauricular pits. This mutation is located at the same position as the mutation identified in the Catwhesel (Cwe) mouse. No renal and branchial defects were observed in our family nor in Cwe/+ mice. A homology model revealed that the replacement of the Glutamate by a Lysine alters the electrostatic potential surface propriety which may affect the DNA-binding activity.

DFNB66 and DFNB67 loci are non allelic and rarely contribute to autosomal recessive nonsyndromic hearing loss.

We previously mapped the DFNB66 locus to an interval overlapping the DFNB67 region. Mutations in the LHFPL5 gene were identified as a cause of DFNB67 hearing loss (HL). However, screening of the coding exons of LHFPL5 did not reveal any mutation in the DFNB66 family. The objective of this study was to check whether DFNB66 and DFNB67 are distinctive loci and determining their contribution to HL. In the DFNB66 family, sequencing showed absence of mutations in the untranslated regions and the predicted promoter sequence of LHFPL5. Analysis of five microsatellites in the 6p21.31-22.3 region and screening of the LHFPL5 gene by DNA heteroduplex analysis in DHPLC revealed a novel mutation (c.89dup) in one out of 129 unrelated Tunisian families with autosomal recessive nonsyndromic (ARNS) HL. Our findings suggest that two distinct genes are responsible for DFNB66 and DFNB67 HL. These loci are likely to be a rare cause of ARNSHL.